NIMH Data Archive - Data

Genomics

Neuroimaging

Phenotype¹

New Trial
Clinical Trial

¹ Numbers reported are subjects by age

New Project
Grant/Project Number

Format should be in the following format: Activity Code, Institute Abbreviation, and Serial Number. Grant Type, Support Year, and Suffix should be excluded. For example, grant 1R01MH123456-01A1 should be entered R01MH123456

Collection - Use Existing Experiment

To associate an experiment to the current collection, just select an axperiment from the table below then click the associate experiment button to persist your changes (saving the collection is not required). Note that once an experiment has been associated to two or more collections, the experiment will not longer be editable.

The table search feature is case insensitive and targets the experiment id, experiment name and experiment type columns. The experiment id is searched only when the search term entered is a number, and filtered using a startsWith comparison. When the search term is not numeric the experiment name is used to filter the results.

Select	Experiment Id	Experiment Name	Experiment Type	Created On

24	HI-NGS_R1	Omics	02/16/2011
475	MB1-10 (CHOP)	Omics	06/07/2016
490	Illumina Infinium PsychArray BeadChip Assay	Omics	07/07/2016
501	PharmacoBOLD Resting State	fMRI	07/27/2016
506	PVPREF	Omics	08/05/2016
509	ABC-CT Resting v2	EEG	08/18/2016
13	Comparison of FI expression in Autistic and Neurotypical Homo Sapiens	Omics	12/28/2010
18	AGRE/Broad Affymetrix 5.0 Genotype Experiment	Omics	01/06/2011
22	Stitching PCR Sequencing	Omics	02/14/2011
26	ASD_Methylation	Omics	03/01/2011
29	Microarray family 03 (father, mother, sibling)	Omics	03/24/2011
37	Standard paired-end sequencing of BCRs	Omics	04/19/2011
38	Illumina Mate-Pair BCR sequencing	Omics	04/19/2011
39	Custom Jumping Libraries	Omics	04/19/2011
40	Custom CapBP	Omics	04/19/2011
41	Immunofluorescence	Omics	05/11/2011
43	Autism brain sample genotyping, Illumina	Omics	05/16/2011
47	ARRA Autism Sequencing Collaboration at Baylor. SOLiD 4 System	Omics	08/01/2011
53	AGRE Omni1-quad	Omics	10/11/2011
59	AGP genotyping	Omics	04/03/2012
60	Ultradeep 454 sequencing of synaptic genes from postmortem cerebella of individuals with ASD and neurotypical controls	Omics	06/23/2012
63	Microemulsion PCR and Targeted Resequencing for Variant Detection in ASD	Omics	07/20/2012
76	Whole Genome Sequencing in Autism Families	Omics	01/03/2013
519	Resting	fMRI	11/08/2016
90	Genotyped IAN Samples	Omics	07/09/2013
91	NJLAGS Axiom Genotyping Array	Omics	07/16/2013
93	AGP genotyping (CNV)	Omics	09/06/2013
106	Longitudinal Sleep Study. H20 200. Channel set 2	EEG	11/07/2013
107	Longitudinal Sleep Study. H20 200. Channel set 3	EEG	11/07/2013
108	Longitudinal Sleep Study. AURA 200	EEG	11/07/2013
105	Longitudinal Sleep Study. H20 200. Channel set 1	EEG	11/07/2013
109	Longitudinal Sleep Study. AURA 400	EEG	11/07/2013
116	Gene Expression Analysis WG-6	Omics	01/07/2014
131	Jeste Lab UCLA ACEii: Charlie Brown and Sesame Street - Project 1	Eye Tracking	02/27/2014
132	Jeste Lab UCLA ACEii: Animacy - Project 1	Eye Tracking	02/27/2014
133	Jeste Lab UCLA ACEii: Mom Stranger - Project 2	Eye Tracking	02/27/2014
134	Jeste Lab UCLA ACEii: Face Emotion - Project 3	Eye Tracking	02/27/2014
145	AGRE/FMR1_Illumina.JHU	Omics	04/14/2014
146	AGRE/MECP2_Sanger.JHU	Omics	04/14/2014
147	AGRE/MECP2_Junior.JHU	Omics	04/14/2014
151	Candidate Gene Identification in familial Autism	Omics	06/09/2014
152	NJLAGS Whole Genome Sequencing	Omics	07/01/2014
154	Math Autism Study - Vinod Menon	fMRI	07/15/2014
155	Resting	fMRI	07/25/2014
156	Speech	fMRI	07/25/2014
159	Emotion	fMRI	07/25/2014
160	syllable contrast	EEG	07/29/2014
167	School-age naturalistic stimuli	Eye Tracking	09/19/2014
44	AGRE/Broad Affymetrix 5.0 Genotype Experiment	Omics	06/27/2011
45	Exome Sequencing of 20 Sporadic Cases of Autism Spectrum Disorder	Omics	07/15/2011

Collection - Add Experiment

Add Supporting Documentation

Funding Source:
URL:

To add an existing Data Structure, enter its title in the search bar. If you need to request changes, select the indicator "No, it requires changes to meet research needs" after selecting the Structure, and upload the file with the request changes specific to the selected Data Structure. Your file should follow the Request Changes Procedure. If the Data Structure does not exist, select "Request New Data Structure" and upload the appropriate zip file.

Use/Modify Existing Data Structure

Request New Data Structure

Targeted Enrollment:

Initial Submission Date:

Initial Share Date:

Data Structure Search:

Data Structures:

Submit

Request Submission Exemption

Not Eligible

The Data Expected list for this Collection shows some raw data as missing. Contact the NDA Help Desk with any questions.

Please confirm that you will not be enrolling any more subjects and that all raw data has been collected and submitted.

Collection Updated

Your Collection is now in Data Analysis phase and exempt from biannual submissions. Analyzed data is still expected prior to publication or no later than the project end date.

[CMS] Error

[CMS]

Unable to change collection phase where targeted enrollment is less than 90%

You have requested to move the sharing dates for the following assessments:

Data Expected Item	Original Sharing Date	New Sharing Date

Please provide a reason for this change, which will be sent to the Program Officers listed within this collection:

Explanation must be between 20 and 200 characters in length.

Please press Save or Cancel

Mosaicism in focal cortical dysplasias spectrum seen in neuropsychiatric disease #2968

General
Experiments (6)
Shared Data
Publications (27)
Data Expected (3)
Associated Studies (4)

Collection Title	Collection Investigators	Collection Description
Collection Title:	Mosaicism in focal cortical dysplasias spectrum seen in neuropsychiatric disease
Collection Investigators:	Joseph G. Gleeson
Collection Description:	The recent discovery that de novo zygotic mutations in the form of CNVs and point mutations make major contributions to neuropsychiatric diseases such as schizophrenia and autism begs the question as to the degree to which de novo post-zygotic mosaic mutations also contribute to disease. In this model, a mutation that occurs post-zygotically can seed some percentage of cells in the brain, and is sufficient to lead to neuronal dysfunction and disease. The approach of sequencing only non-neural tissues such as blood may underpower the detection of mosaicism, because mutations may be restricted to neural tissue. This proposal brings together a highly productive and collaborative team, in which each member contributes a special resource to make this effort truly unique. Gleeson and Mathern recently identified among the first de novo somatic mutations in the developing brain in the condition known as `hemimegalencephaly' (HME), a catastrophic neuropsychiatric condition associated with focal cortical disorganization (FCD). By comparing DNA from diseased brain vs. blood, we identified de novo somatic mutations in PIK3CA, AKT3 and MTOR, part of the mTOR pathway, in as few as 8% of brain cells, resulting in perturbations in an entire cerebral hemisphere. Courchesne and Roy recently identified focal patches of abnormal laminar cytoarchitecture in frontal and temporal cortex in the majority of available brain samples of children studied with autism (ASD), and we suggest focal patches akin to FCD may have similar mutations and contribute to disease. The goal of this application is to extend the discovery of mosaicism in patients with epilepsy and autism in which neurohistopathological evidence points to FCD, by sequencing dysplasias compared with adjacent normal tissue and/or blood at the DNA and RNA level at the single-cell level. We aim to uncover key sets of genes, in which specific de novo mutations, in specific locations, at specific mosaicism levels, is sufficient to produce clinically defined disease. We will combine next-generation sequencing of FCD brain from patients with neuropsychiatric disease with advanced bioinformatics, single-cell sequencing, complete clinical correlated neuroanatomy and mouse modeling. We will: 1] Test for de novo somatic mutations in a retrospective and prospective cohort of FCD presenting with autism or epilepsy. 2] Correlate genetic disease burden with clinical, imaging, histopathological and single-cell sequencing findings. 3] Test mechanisms by which uncovered de novo mutations alter progenitor cell functions in mammalian cerebral cortex.
Data Repository:	NIMH Data Archive
Permission Group:
Collection Creation Date:	07/10/2018
NIH Research Initiative:	Brain Somatic Mosaicism Network (BSMN)
Collection Phase:	Funding Completed
Collection Sub-Phase:	Close Out
Blinded Clinical Trial:	No
Total Funded Amount:	$1,376,367.00
Subjects Shared:	107

{"values":[]}

Loading Chart...

Funding Sources:

Funding Source Name	Funding Source URL
NIH - Extramural	None

Supporting Documentation:

Grant Information:

Project Number	Project Title	Start Date	End Date	Planned Enrollment	Actual Enrollment	Organization	Funds Obligated
U01MH108898-01	Mosaicism in focal cortical dysplasias spectrum seen in neuropsychiatric disease	09/22/2015	06/30/2020	200	562	ROCKEFELLER UNIVERSITY	$1,376,367.00

Clinical Trials:

helpcenter.collection.general-tab

Collection - General Tab

Fields available for edit on the top portion of the page include:

Collection Title
Investigators
Collection Description
Collection Phase
Funding Source
Clinical Trials

Collection Phase: The current status of a research project submitting data to an NDA Collection, based on the timing of the award and/or the data that have been submitted.

Pre-Enrollment: The default entry made when the NDA Collection is created.
Enrolling: Data have been submitted to the NDA Collection or the NDA Data Expected initial submission date has been reached for at least one data structure category in the NDA Collection.
Data Analysis: Subject level data collection for the research project is completed and has been submitted to the NDA Collection. The NDA Collection owner or the NDA Help Desk may set this phase when they’ve confirmed data submission is complete and submitted subject counts match at least 90% of the target enrollment numbers in the NDA Data Expected. Data submission reminders will be turned off for the NDA Collection.
Funding Completed: The NIH grant award (or awards) associated with the NDA Collection has reached its end date. NDA Collections in Funding Completed phase are assigned a subphase to indicate the status of data submission.
- The Data Expected Subphase indicates that NDA expects more data will be submitted
- The Closeout Subphase indicates the data submission is complete.
- The Sharing Not Met Subphase indicates that data submission was not completed as expected.

Blinded Clinical Trial Status:

This status is set by a Collection Owner and indicates the research project is a double blinded clinical trial. When selected, the public view of Data Expected will show the Data Expected items and the Submission Dates, but the targeted enrollment and subjects submitted counts will not be displayed.
Targeted enrollment and subjects submitted counts are visible only to NDA Administrators and to the NDA Collection or as the NDA Collection Owner.
When an NDA Collection that is flagged Blinded Clinical Trial reaches the maximum data sharing date for that Data Repository (see https://nda.nih.gov/nda/sharing-regimen.html), the embargo on Data Expected information is released.

Funding Source

The organization(s) responsible for providing the funding is listed here.

Supporting Documentation

Users with Submission privileges, as well as Collection Owners, Program Officers, and those with Administrator privileges, may upload and attach supporting documentation. By default, supporting documentation is shared to the general public, however, the option is also available to limit this information to qualified researchers only.

Grant Information

Identifiable details are displayed about the Project of which the Collection was derived from. You may click in the Project Number to view a full report of the Project captured by the NIH.

Clinical Trials

Any data that is collected to support or further the research of clinical studies will be available here. Collection Owners and those with Administrator privileges may add new clinical trials.

Frequently Asked Questions

How does the NIMH Data Archive (NDA) determine which Permission Group data are submitted into?

During Collection creation, NDA staff determine the appropriate Permission Group based on the type of data to be submitted, the type of access that will be available to data access users, and the information provided by the Program Officer during grant award.
How do I know when a NDA Collection has been created?

When a Collection is created by NDA staff, an email notification will automatically be sent to the PI(s) of the grant(s) associated with the Collection to notify them.
Is a single grant number ever associated with more than one Collection?

The NDA system does not allow for a single grant to be associated with more than one Collection; therefore, a single grant will not be listed in the Grant Information section of a Collection for more than one Collection.
Why is there sometimes more than one grant included in a Collection?

In general, each Collection is associated with only one grant; however, multiple grants may be associated if the grant has multiple competing segments for the same grant number or if multiple different grants are all working on the same project and it makes sense to hold the data in one Collection (e.g., Cooperative Agreements).

Glossary

Administrator Privilege

A privilege provided to a user associated with an NDA Collection or NDA Study whereby that user can perform a full range of actions including providing privileges to other users.
Collection Owner

Generally, the Collection Owner is the contact PI listed on a grant. Only one NDA user is listed as the Collection owner. Most automated emails are primarily sent to the Collection Owner.
Collection Phase
The Collection Phase provides information on data submission as opposed to grant/project completion so while the Collection phase and grant/project phase may be closely related they are often different. Collection users with Administrative Privileges are encouraged to edit the Collection Phase. The Program Officer as listed in eRA (for NIH funded grants) may also edit this field. Changes must be saved by clicking the Save button at the bottom of the page. This field is sortable alphabetically in ascending or descending order. Collection Phase options include:
- Pre-Enrollment: A grant/project has started, but has not yet enrolled subjects.
- Enrolling: A grant/project has begun enrolling subjects. Data submission is likely ongoing at this point.
- Data Analysis: A grant/project has completed enrolling subjects and has completed all data submissions.
- Funding Completed: A grant/project has reached the project end date.
Collection Title

An editable field with the title of the Collection, which is often the title of the grant associated with the Collection.
Grant

Provides the grant number(s) for the grant(s) associated with the Collection. The field is a hyperlink so clicking on the Grant number will direct the user to the grant information in the NIH Research Portfolio Online Reporting Tools (RePORT) page.
Supporting Documentation

Various documents and materials to enable efficient use of the data by investigators unfamiliar with the project and may include the research protocol, questionnaires, and study manuals.
NIH Research Initiative

NDA Collections may be organized by scientific similarity into NIH Research Initiatives, to facilitate query tool user experience. NIH Research Initiatives map to one or multiple Funding Opportunity Announcements.
Permission Group

Access to shared record-level data in NDA is provisioned at the level of a Permission Group. NDA Permission Groups consist of one or multiple NDA Collections that contain data with the same subject consents.
Planned Enrollment

Number of human subject participants to be enrolled in an NIH-funded clinical research study. The data is provided in competing applications and annual progress reports.
Actual Enrollment

Number of human subjects enrolled in an NIH-funded clinical research study. The data is provided in annual progress reports.
NDA Collection

A virtual container and organization structure for data and associated documentation from one grant or one large project/consortium. It contains tools for tracking data submission and allows investigators to define a wide array of other elements that provide context for the data, including all general information regarding the data and source project, experimental parameters used to collect any event-based data contained in the Collection, methods, and other supporting documentation. They also allow investigators to link underlying data to an NDA Study, defining populations and subpopulations specific to research aims.
Data Use Limitations

Data Use Limitations (DULs) describe the appropriate secondary use of a dataset and are based on the original informed consent of a research participant. NDA only accepts consent-based data use limitations defined by the NIH Office of Science Policy.
Total Subjects Shared

The total number of unique subjects for whom data have been shared and are available for users with permission to access data.

Contact NDA Help Desk

ID	Name	Created Date	Status	Type
1030	UCSD_Gleeson_U01MH108898_WES_SureSelect_HiSeq2000	08/14/2018	Approved	Omics
1031	UCSD_Gleeson_U01MH108898_WES_SureSelectXT_HiSeq2500	08/14/2018	Approved	Omics
1032	UCSD_Gleeson_U01MH108898_WES_Nextera_HiSeq2500	08/14/2018	Approved	Omics
1362	UCSD_Gleeson_U01MH108898_WGS_TruSeq_NovaSeq6000	07/19/2019	Approved	Omics
1584	UCSD_Gleeson_U01MH108898_MPAS_AmpliSeq_NovaSeq	07/20/2020	Approved	Omics
1585	UCSD_Gleeson_U01MH108898_snMPAS_AmpliSeq_NovaSeq	07/20/2020	Approved	Omics

helpcenter.collection.experiments-tab

Collection - Experiments

The number of Experiments included is displayed in parentheses next to the tab name. You may download all experiments associated with the Collection via the Download button. You may view individual experiments by clicking the Experiment Name and add them to the Filter Cart via the Add to Cart button.

Collection Owners, Program Officers, and users with Submission or Administrative Privileges for the Collection may create or edit an Experiment.

Please note: The creation of an NDA Experiment does not necessarily mean that data collected, according to the defined Experiment, has been submitted or shared.

Frequently Asked Questions

Can an Experiment be associated with more than one Collection?
Yes -see the “Copy” button in the bottom left when viewing an experiment. There are two actions that can be performed via this button:
1. Copy the experiment with intent for modifications.
2. Associate the experiment to the collection. No modifications can be made to the experiment.

Glossary

Experiment Status

An Experiment must be Approved before data using the associated Experiment_ID may be uploaded.
Experiment ID

The ID number automatically generated by NDA which must be included in the appropriate file when uploading data to link the Experiment Definition to the subject record.

Contact NDA Help Desk

Shared Data:

Title	Type	Number of Subjects
Brain and Tissue Bank Form	Clinical Assessments	107
Genomics Sample	Genomics	107
Genomics Subject	Genomics	107

helpcenter.collection.shared-data-tab

Collection - Shared Data

This tab provides a quick overview of the Data Structure title, Data Type, and Number of Subjects that are currently Shared for the Collection. The information presented in this tab is automatically generated by NDA and cannot be edited. If no information is visible on this tab, this would indicate the Collection does not have shared data or the data is private.

The shared data is available to other researchers who have permission to access data in the Collection's designated Permission Group(s). Use the Download button to get all shared data from the Collection to the Filter Cart.

Frequently Asked Questions

How will I know if another researcher uses data that I shared through the NIMH Data Archive (NDA)?

To see what data your project have submitted are being used by a study, simply go the Associated Studies tab of your collection. Alternatively, you may review an NDA Study Attribution Report available on the General tab.
Can I get a supplement to share data from a completed research project?

Often it becomes more difficult to organize and format data electronically after the project has been completed and the information needed to create a GUID may not be available; however, you may still contact a program staff member at the appropriate funding institution for more information.
Can I get a supplement to share data from a research project that is still ongoing?

Unlike completed projects where researchers may not have the information needed to create a GUID and/or where the effort needed to organize and format data becomes prohibitive, ongoing projects have more of an opportunity to overcome these challenges. Please contact a program staff member at the appropriate funding institution for more information.

Glossary

Data Structure

A defined organization and group of Data Elements to represent an electronic definition of a measure, assessment, questionnaire, or collection of data points. Data structures that have been defined in the NDA Data Dictionary are available at https://nda.nih.gov/general-query.html?q=query=data-structure
Data Type

A grouping of data by similar characteristics such as Clinical Assessments, Omics, or Neurosignal data.
Shared

The term 'Shared' generally means available to others; however, there are some slightly different meanings based on what is Shared. A Shared NDA Study is viewable and searchable publicly regardless of the user's role or whether the user has an NDA account. A Shared NDA Study does not necessarily mean that data used in the NDA Study have been shared as this is independently determined. Data are shared according the schedule defined in a Collection's Data Expected Tab and/or in accordance with data sharing expectations in the NDA Data Sharing Terms and Conditions. Additionally, Supporting Documentation uploaded to a Collection may be shared independent of whether data are shared.

Contact NDA Help Desk

Collection Owners and those with Collection Administrator permission, may edit a collection. The following is currently available for Edit on this page:

Publications

Publications relevant to NDA data are listed below. Most displayed publications have been associated with the grant within Pubmed. Use the "+ New Publication" button to add new publications. Publications relevant/not relevant to data expected are categorized. Relevant publications are then linked to the underlying data by selecting the Create Study link. Study provides the ability to define cohorts, assign subjects, define outcome measures and lists the study type, data analysis and results. Analyzed data and results are expected in this way.

PubMed ID	Study	Title	Journal	Authors	Date	Status
39386543	Create Study	Genomic mosaicism reveals developmental organization of trunk neural crest-derived ganglia.	bioRxiv : the preprint server for biology	Vong, Keng Ioi; Alvarez, Yanina D; Noel, Geoffroy; Barton, Scott T; Chung, Changuk; Howarth, Robyn; Meave, Naomi; Zhang, Qingquan; Jiwani, Fiza; Barrows, Chelsea; Patel, Arzoo; Wang, Jiang Xiong; Chi, Neil; Kingsmore, Stephen F; White, Melanie D; Yang, Xiaoxu; Gleeson, Joseph G	September 26, 2024	Not Determined
39350293	Create Study	A 3D approach to understanding heterogeneity in early developing autisms.	Molecular autism	Mandelli, Veronica; Severino, Ines; Eyler, Lisa; Pierce, Karen; Courchesne, Eric; Lombardo, Michael V	September 30, 2024	Not Determined
38600385	Create Study	Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain.	Nature	Chung, Changuk; Yang, Xiaoxu; Hevner, Robert F; Kennedy, Katie; Vong, Keng Ioi; Liu, Yang; Patel, Arzoo; Nedunuri, Rahul; Barton, Scott T; Noel, Geoffroy; Barrows, Chelsea; Stanley, Valentina; Mittal, Swapnil; Breuss, Martin W; Schlachetzki, Johannes C M; Kingsmore, Stephen F; Gleeson, Joseph G	May 1, 2024	Not Determined
37985666	Create Study	Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases.	Scientific data	Garrison, McKinzie A; Jang, Yeongjun; Bae, Taejeong; Cherskov, Adriana; Emery, Sarah B; Fasching, Liana; Jones, Attila; Moldovan, John B; Molitor, Cindy; Pochareddy, Sirisha; Peters, Mette A; Shin, Joo Heon; Wang, Yifan; Yang, Xiaoxu; Akbarian, Schahram; Chess, Andrew; Gage, Fred H; Gleeson, Joseph G; Kidd, Jeffrey M; McConnell, Michael; Mills, Ryan E; Moran, John V; Park, Peter J; Sestan, Nenad; Urban, Alexander E; Vaccarino, Flora M; Walsh, Christopher A; Weinberger, Daniel R; Wheelan, Sarah J; Abyzov, Alexej; BSMN Consortium	November 20, 2023	Not Determined
37961480	Create Study	Cell-type-resolved somatic mosaicism reveals clonal dynamics of the human forebrain.	bioRxiv : the preprint server for biology	Chung, Changuk; Yang, Xiaoxu; Hevner, Robert F; Kennedy, Katie; Vong, Keng Ioi; Liu, Yang; Patel, Arzoo; Nedunuri, Rahul; Barton, Scott T; Barrows, Chelsea; Stanley, Valentina; Mittal, Swapnil; Breuss, Martin W; Schlachetzki, Johannes C M; Gleeson, Joseph G	October 26, 2023	Not Determined
36635388	Create Study	Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.	Nature genetics	Chung, Changuk; Yang, Xiaoxu; Bae, Taejeong; Vong, Keng Ioi; Mittal, Swapnil; Donkels, Catharina; Westley Phillips, H; Li, Zhen; Marsh, Ashley P L; Breuss, Martin W; Ball, Laurel L; Garcia, Camila Araújo Bernardino; George, Renee D; Gu, Jing; Xu, Mingchu; Barrows, Chelsea; James, Kiely N; Stanley, Valentina; Nidhiry, Anna S; Khoury, Sami; Howe, Gabrielle; Riley, Emily; Xu, Xin; Copeland, Brett; Wang, Yifan; Kim, Se Hoon; Kang, Hoon-Chul; Schulze-Bonhage, Andreas; Haas, Carola A; Urbach, Horst; Prinz, Marco; Limbrick Jr, David D; Gurnett, Christina A; Smyth, Matthew D; Sattar, Shifteh; Nespeca, Mark; Gonda, David D; Imai, Katsumi; Takahashi, Yukitoshi; Chen, Hsin-Hung; Tsai, Jin-Wu; Conti, Valerio; Guerrini, Renzo; Devinsky, Orrin; Silva Jr, Wilson A; Machado, Helio R; Mathern, Gary W; Abyzov, Alexej; Baldassari, Sara; Baulac, Stéphanie; Focal Cortical Dysplasia Neurogenetics Consortium; Brain Somatic Mosaicism Network; Gleeson, Joseph G	February 1, 2023	Not Determined
36593400	Create Study	Control-independent mosaic single nucleotide variant detection with DeepMosaic.	Nature biotechnology	Yang, Xiaoxu; Xu, Xin; Breuss, Martin W; Antaki, Danny; Ball, Laurel L; Chung, Changuk; Shen, Jiawei; Li, Chen; George, Renee D; Wang, Yifan; Bae, Taejeong; Cheng, Yuhe; Abyzov, Alexej; Wei, Liping; Alexandrov, Ludmil B; Sebat, Jonathan L; NIMH Brain Somatic Mosaicism Network; Gleeson, Joseph G	June 1, 2023	Not Determined
35901164	Create Study	Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability.	Science (New York, N.Y.)	Bae, Taejeong; Fasching, Liana; Wang, Yifan; Shin, Joo Heon; Suvakov, Milovan; Jang, Yeongjun; Norton, Scott; Dias, Caroline; Mariani, Jessica; Jourdon, Alexandre; Wu, Feinan; Panda, Arijit; Pattni, Reenal; Chahine, Yasmine; Yeh, Rebecca; Roberts, Rosalinda C; Huttner, Anita; Kleinman, Joel E; Hyde, Thomas M; Straub, Richard E; Walsh, Christopher A; Brain Somatic Mosaicism Network§; Urban, Alexander E; Leckman, James F; Weinberger, Daniel R; Vaccarino, Flora M; Abyzov, Alexej	July 29, 2022	Not Determined
35444276	Create Study	Somatic mosaicism reveals clonal distributions of neocortical development.	Nature	Breuss, Martin W; Yang, Xiaoxu; Schlachetzki, Johannes C M; Antaki, Danny; Lana, Addison J; Xu, Xin; Chung, Changuk; Chai, Guoliang; Stanley, Valentina; Song, Qiong; Newmeyer, Traci F; Nguyen, An; O'Brien, Sydney; Hoeksema, Marten A; Cao, Beibei; Nott, Alexi; McEvoy-Venneri, Jennifer; Pasillas, Martina P; Barton, Scott T; Copeland, Brett R; Nahas, Shareef; Van Der Kraan, Lucitia; Ding, Yan; NIMH Brain Somatic Mosaicism Network; Glass, Christopher K; Gleeson, Joseph G	April 1, 2022	Relevant
34516910	Create Study	Atypical genomic cortical patterning in autism with poor early language outcome.	Science advances	Lombardo, Michael V; Eyler, Lisa; Pramparo, Tiziano; Gazestani, Vahid H; Hagler Jr, Donald J; Chen, Chi-Hua; Dale, Anders M; Seidlitz, Jakob; Bethlehem, Richard A I; Bertelsen, Natasha; Barnes, Cynthia Carter; Lopez, Linda; Campbell, Kathleen; Lewis, Nathan E; Pierce, Karen; Courchesne, Eric	September 3, 2021	Not Determined
34388390	Create Study	Developmental and temporal characteristics of clonal sperm mosaicism.	Cell	Yang, Xiaoxu; Breuss, Martin W; Xu, Xin; Antaki, Danny; James, Kiely N; Stanley, Valentina; Ball, Laurel L; George, Renee D; Wirth, Sara A; Cao, Beibei; Nguyen, An; McEvoy-Venneri, Jennifer; Chai, Guoliang; Nahas, Shareef; Van Der Kraan, Lucitia; Ding, Yan; Sebat, Jonathan; Gleeson, Joseph G	September 2, 2021	Relevant
34341515	Create Study	Pre-treatment clinical and gene expression patterns predict developmental change in early intervention in autism.	Molecular psychiatry	Lombardo, Michael V; Busuoli, Elena Maria; Schreibman, Laura; Stahmer, Aubyn C; Pramparo, Tiziano; Landi, Isotta; Mandelli, Veronica; Bertelsen, Natasha; Barnes, Cynthia Carter; Gazestani, Vahid; Lopez, Linda; Bacon, Elizabeth C; Courchesne, Eric; Pierce, Karen	December 1, 2021	Not Determined
34158173	Create Study	Sperm mosaicism: implications for genomic diversity and disease.	Trends in genetics : TIG	Breuss, Martin W; Yang, Xiaoxu; Gleeson, Joseph G	October 1, 2021	Relevant
33781308	Create Study	Comprehensive identification of somatic nucleotide variants in human brain tissue.	Genome biology	Wang, Yifan; Bae, Taejeong; Thorpe, Jeremy; Sherman, Maxwell A; Jones, Attila G; Cho, Sean; Daily, Kenneth; Dou, Yanmei; Ganz, Javier; Galor, Alon; Lobon, Irene; Pattni, Reenal; Rosenbluh, Chaggai; Tomasi, Simone; Tomasini, Livia; Yang, Xiaoxu; Zhou, Bo; Akbarian, Schahram; Ball, Laurel L; Bizzotto, Sara; Emery, Sarah B; Doan, Ryan; Fasching, Liana; Jang, Yeongjun; Juan, David; Lizano, Esther; Luquette, Lovelace J; Moldovan, John B; Narurkar, Rujuta; Oetjens, Matthew T; Rodin, Rachel E; Sekar, Shobana; Shin, Joo Heon; Soriano, Eduardo; Straub, Richard E; Zhou, Weichen; Chess, Andrew; Gleeson, Joseph G; Marquès-Bonet, Tomas; Park, Peter J; Peters, Mette A; Pevsner, Jonathan; Walsh, Christopher A; Weinberger, Daniel R; Brain Somatic Mosaicism Network; Vaccarino, Flora M; Moran, John V; Urban, Alexander E; Kidd, Jeffrey M; Mills, Ryan E; Abyzov, Alexej	March 29, 2021	Relevant
33432196	Create Study	Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia.	Nature neuroscience	Zhu, Xiaowei; Zhou, Bo; Pattni, Reenal; Gleason, Kelly; Tan, Chunfeng; Kalinowski, Agnieszka; Sloan, Steven; Fiston-Lavier, Anna-Sophie; Mariani, Jessica; Petrov, Dmitri; Barres, Ben A; Duncan, Laramie; Abyzov, Alexej; Vogel, Hannes; Brain Somatic Mosaicism Network; Moran, John V; Vaccarino, Flora M; Tamminga, Carol A; Levinson, Douglas F; Urban, Alexander E	February 1, 2021	Relevant
33432195	Create Study	The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.	Nature neuroscience	Rodin, Rachel E; Dou, Yanmei; Kwon, Minseok; Sherman, Maxwell A; D'Gama, Alissa M; Doan, Ryan N; Rento, Lariza M; Girskis, Kelly M; Bohrson, Craig L; Kim, Sonia N; Nadig, Ajay; Luquette, Lovelace J; Gulhan, Doga C; Brain Somatic Mosaicism Network; Park, Peter J; Walsh, Christopher A	February 1, 2021	Relevant
33188300	Create Study	Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.	Genetics in medicine : official journal of the American College of Medical Genetics	Ghosh, Shereen G; Lee, Sangmoon; Fabunan, Rudy; Chai, Guoliang; Zaki, Maha S; Abdel-Salam, Ghada; Sultan, Tipu; Ben-Omran, Tawfeg; Alvi, Javeria Raza; McEvoy-Venneri, Jennifer; Stanley, Valentina; Patel, Aakash; Ross, Danica; Ding, Jeffrey; Jain, Mohit; Pan, Daqiang; Lübbert, Philipp; Kammerer, Bernd; Wiedemann, Nils; Verhoeven-Duif, Nanda M; Jans, Judith J; Murphy, David; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan Ghayoor; Ibrahim, Khalid; Waters, Elizabeth R; Maroofian, Reza; Gleeson, Joseph G	March 1, 2021	Not Determined
31873310	Create Study	Autism risk in offspring can be assessed through quantification of male sperm mosaicism.	Nature medicine	Breuss, Martin W; Antaki, Danny; George, Renee D; Kleiber, Morgan; James, Kiely N; Ball, Laurel L; Hong, Oanh; Mitra, Ileena; Yang, Xiaoxu; Wirth, Sara A; Gu, Jing; Garcia, Camila A B; Gujral, Madhusudan; Brandler, William M; Musaev, Damir; Nguyen, An; McEvoy-Venneri, Jennifer; Knox, Renatta; Sticca, Evan; Botello, Martha Cristina Cancino; Uribe Fenner, Javiera; Pérez, Maria Cárcel; Arranz, Maria; Moffitt, Andrea B; Wang, Zihua; Hervás, Amaia; Devinsky, Orrin; Gymrek, Melissa; Sebat, Jonathan; Gleeson, Joseph G	January 2020	Relevant
31585108	Create Study	Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.	American journal of human genetics	Lee, Sangmoon; Chen, Dillon Y; Zaki, Maha S; Maroofian, Reza; Houlden, Henry; Di Donato, Nataliya; Abdin, Dalia; Morsy, Heba; Mirzaa, Ghayda M; Dobyns, William B; McEvoy-Venneri, Jennifer; Stanley, Valentina; James, Kiely N; Mancini, Grazia M S; Schot, Rachel; Kalayci, Tugba; Altunoglu, Umut; Karimiani, Ehsan Ghayoor; Brick, Lauren; Kozenko, Mariya; Jamshidi, Yalda; Manzini, M Chiara; Beiraghi Toosi, Mehran; Gleeson, Joseph G	October 2019	Not Determined
31411685	Create Study	Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.	Human molecular genetics	Pelorosso, Cristiana; Watrin, Françoise; Conti, Valerio; Buhler, Emmanuelle; Gelot, Antoinette; Yang, Xiaoxu; Mei, Davide; McEvoy-Venneri, Jennifer; Manent, Jean-Bernard; Cetica, Valentina; Ball, Laurel L; Buccoliero, Anna Maria; Vinck, Antonin; Barba, Carmen; Gleeson, Joseph G; Guerrini, Renzo; Represa, Alfonso	November 2019	Relevant
30761153	Create Study	Evidence for Innate and Adaptive Immune Responses in a Cohort of Intractable Pediatric Epilepsy Surgery Patients.	Frontiers in immunology	Owens, Geoffrey C; Garcia, Alejandro J; Mochizuki, Aaron Y; Chang, Julia W; Reyes, Samuel D; Salamon, Noriko; Prins, Robert M; Mathern, Gary W; Fallah, Aria	January 2019	Not Determined
30482947	Create Study	Large-scale associations between the leukocyte transcriptome and BOLD responses to speech differ in autism early language outcome subtypes.	Nature neuroscience	Lombardo, Michael V; Pramparo, Tiziano; Gazestani, Vahid; Warrier, Varun; Bethlehem, Richard A I; Carter Barnes, Cynthia; Lopez, Linda; Lewis, Nathan E; Eyler, Lisa; Pierce, Karen; Courchesne, Eric	December 2018	Not Determined
29934544	Create Study	The ASD Living Biology: from cell proliferation to clinical phenotype.	Molecular psychiatry	Courchesne, Eric; Pramparo, Tiziano; Gazestani, Vahid H; Lombardo, Michael V; Pierce, Karen; Lewis, Nathan E	January 2019	Not Determined
29513649	Create Study	Human hippocampal neurogenesis drops sharply in children to undetectable levels in adults.	Nature	Sorrells, Shawn F; Paredes, Mercedes F; Cebrian-Silla, Arantxa; Sandoval, Kadellyn; Qi, Dashi; Kelley, Kevin W; James, David; Mayer, Simone; Chang, Julia; Auguste, Kurtis I; Chang, Edward F; Gutierrez, Antonio J; Kriegstein, Arnold R; Mathern, Gary W; Oldham, Michael C; Huang, Eric J; Garcia-Verdugo, Jose Manuel; Yang, Zhengang; Alvarez-Buylla, Arturo	March 2018	Not Determined
28450582	Create Study	Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network.	Science (New York, N.Y.)	McConnell, Michael J; Moran, John V; Abyzov, Alexej; Akbarian, Schahram; Bae, Taejeong; Cortes-Ciriano, Isidro; Erwin, Jennifer A; Fasching, Liana; Flasch, Diane A; Freed, Donald; Ganz, Javier; Jaffe, Andrew E; Kwan, Kenneth Y; Kwon, Minseok; Lodato, Michael A; Mills, Ryan E; Paquola, Apua C M; Rodin, Rachel E; Rosenbluh, Chaggai; Sestan, Nenad; Sherman, Maxwell A; Shin, Joo Heon; Song, Saera; Straub, Richard E; Thorpe, Jeremy; Weinberger, Daniel R; Urban, Alexander E; Zhou, Bo; Gage, Fred H; Lehner, Thomas; Senthil, Geetha; Walsh, Christopher A; Chess, Andrew; Courchesne, Eric; Gleeson, Joseph G; Kidd, Jeffrey M; Park, Peter J; Pevsner, Jonathan; Vaccarino, Flora M; Brain Somatic Mosaicism Network	April 2017	Relevant
28066418	Create Study	Shared HLA Class I and II Alleles and Clonally Restricted Public and Private Brain-Infiltrating αβ T Cells in a Cohort of Rasmussen Encephalitis Surgery Patients.	Frontiers in immunology	Dandekar S, Wijesuriya H, Geiger T, Hamm D, Mathern GW, Owens GC	January 2016	Not Determined
26523971	Create Study	An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development.	Nature medicine	Baek, Seung Tae; Copeland, Brett; Yun, Eun-Jin; Kwon, Seok-Kyu; Guemez-Gamboa, Alicia; Schaffer, Ashleigh E; Kim, Sangwoo; Kang, Hoon-Chul; Song, Saera; Mathern, Gary W; Gleeson, Joseph G	December 2015	Not Determined

helpcenter.collection.publications-tab

Collection - Publications

The number of Publications is displayed in parentheses next to the tab name. Clicking on any of the Publication Titles will open the Publication in a new internet browsing tab.

Collection Owners, Program Officers, and users with Submission or Administrative Privileges for the Collection may mark a publication as either Relevant or Not Relevant in the Status column.

Frequently Asked Questions

How can I determine if a publication is relevant?

Publications are considered relevant to a collection when the data shared is directly related to the project or collection.
Where does the NDA get the publications?

PubMed, an online library containing journals, articles, and medical research. Sponsored by NiH and National Library of Medicine (NLM).

Glossary

Create Study

A link to the Create an NDA Study page that can be clicked to start creating an NDA Study with information such as the title, journal and authors automatically populated.
Not Determined Publication

Indicates that the publication has not yet been reviewed and/or marked as Relevant or Not Relevant so it has not been determined whether an NDA Study is expected.
Not Relevant Publication

A publication that is not based on data related to the aims of the grant/project associated with the Collection or not based on any data such as a review article and, therefore, an NDA Study is not expected to be created.
PubMed

PubMed provides citation information for biomedical and life sciences publications and is managed by the U.S. National Institutes of Health's National Library of Medicine.
PubMed ID

The PUBMed ID is the unique ID number for the publication as recorded in the PubMed database.
Relevant Publication

A publication that is based on data related to the aims of the grant/project associated with the Collection and, therefore, an NDA Study is expected to be created.

Contact NDA Help Desk

Data Expected List: Mandatory Data Structures

These data structures are mandatory for your NDA Collection. Please update the Targeted Enrollment number to accurately represent the number of subjects you expect to submit for the entire study.

For NIMH HIV-related research that involves human research participants: Select the dictionary or dictionaries most appropriate for your research. If your research does not require all three data dictionaries, just ignore the ones you do not need. There is no need to delete extra data dictionaries from your NDA Collection. You can adjust the Targeted Enrollment column in the Data Expected tab to “0” for those unnecessary data dictionaries. At least one of the three data dictionaries must have a non-zero value.

Data Expected	Targeted Enrollment	Initial Submission	Subjects Submitted	Initial Share	Subjects Shared	Status
Research Subject and Pedigree	106	07/15/2019	107	06/30/2021	107	Approved

To create your project's Data Expected list, use the "+New Data Expected" to add or request existing structures and to request new Data Structures that are not in the NDA Data Dictionary.

If the Structure you need already exists, locate it and specify your dates and enrollment when adding it to your Data Expected list. If you require changes to the Structure you need, select the indicator stating "No, it requires changes to meet research needs," and upload a file containing your requested changes.

If the structure you need is not yet defined in the Data Dictionary, you can select "Upload Definition" and attach the necessary materials to request its creation.

When selecting the expected dates for your data, make sure to follow the standard Data Sharing Regimen and choose dates within the date ranges that correspond to your project start and end dates.

Please visit the Completing Your Data Expected Tutorial for more information.

Data Expected List: Data Structures per Research Aims

These data structures are specific to your research aims and should list all data structures in which data will be collected and submitted for this NDA Collection. Please update the Targeted Enrollment number to accurately represent the number of subjects you expect to submit for the entire study.

Data Expected	Targeted Enrollment	Initial Submission	Subjects Submitted	Initial Share	Subjects Shared	Status
Genomics/omics	106	07/15/2019	107	06/30/2021	107	Approved
Summary	106	07/15/2019	107	06/30/2021	107	Approved

Structure not yet defined

No Status history for this Data Expected has been recorded yet

helpcenter.collection.data-expected-tab

Collection - Data Expected

The Data Expected tab displays the list of all data that NDA expects to receive in association with the Collection as defined by the contributing researcher, as well as the dates for the expected initial upload of the data, and when it is first expected to be shared, or with the research community. Above the primary table of Data Expected, any publications determined to be relevant to the data within the Collection are also displayed - members of the contributing research group can use these to define NDA Studies, connecting those papers to underlying data in NDA.

The tab is used both as a reference for those accessing shared data, providing information on what is expected and when it will be shared, and as the primary tracking mechanism for contributing projects. It is used by both contributing primary researchers, secondary researchers, and NIH Program and Grants Management staff.

Researchers who are starting their project need to update their Data Expected list to include all the Data Structures they are collecting under their grant and set their initial submission and sharing schedule according to the NDA Data Sharing Regimen.

To add existing Data Structures from the Data Dictionary, to request new Data Structure that are not in the Dictionary, or to request changes to existing Data Structures, click "+New Data Expected".

For step-by-step instructions on how to add existing Data Structures, request changes to an existing Structure, or request a new Data Structure, please visit the Completing Your Data Expected Tutorial.

If you are a contributing researcher creating this list for the first time, or making changes to the list as your project progress, please note the following:

Although items you add to the list and changes you make are displayed, they are not committed to the system until you Save the entire page using the "Save" button at the bottom of your screen. Please Save after every change to ensure none of your work is lost.
If you attempt to add a new structure, the title you provide must be unique - if another structure exists with the same name your change will fail.
Adding a new structure to this list is the only way to request the creation of a new Data Dictionary definition.

Frequently Asked Questions

What is an NDA Data Structure?

An NDA Data Structure is comprised of multiple Data Elements to make up an electronic definition of an assessment, measure, questionnaire, etc will have a corresponding Data Structure.
What is the NDA Data Dictionary?

The NDA Data Dictionary is comprised of electronic definitions known as Data Structures.

Glossary

Analyzed Data

Data specific to the primary aims of the research being conducted (e.g. outcome measures, other dependent variables, observations, laboratory results, analyzed images, volumetric data, etc.) including processed images.
Data Item

Items listed on the Data Expected list in the Collection which may be an individual and discrete Data Structure, Data Structure Category, or Data Structure Group.
Data Structure

A defined organization and group of Data Elements to represent an electronic definition of a measure, assessment, questionnaire, or collection of data points. Data structures that have been defined in the NDA Data Dictionary are available at https://nda.nih.gov/general-query.html?q=query=data-structure
Data Structure Category

An NDA term describing the affiliation of a Data Structure to a Category, which may be disease/disorder or diagnosis related (Depression, ADHD, Psychosis), specific to data type (MRI, eye tracking, omics), or type of data (physical exam, IQ).
Data Structure Group

A Data Item listed on the Data Expected tab of a Collection that indicates a group of Data Structures (e.g., ADOS or SCID) for which data may be submitted instead of a specific Data Structure identified by version, module, edition, etc. For example, the ADOS Data Structure Category includes every ADOS Data Structure such as ADOS Module 1, ADOS Module 2, ADOS Module 1 - 2nd Edition, etc. The SCID Data Structure Group includes every SCID Data Structure such as SCID Mania, SCID V Mania, SCID PTSD, SCID-V Diagnosis, and more.
Evaluated Data

A new Data Structure category, Evaluated Data is analyzed data resulting from the use of computational pipelines in the Cloud and can be uploaded directly back to a miNDAR database. Evaluated Data is expected to be listed as a Data Item in the Collection's Data Expected Tab.
Imaging Data

Imaging+ is an NDA term which encompasses all imaging related data including, but not limited to, images (DTI, MRI, PET, Structural, Spectroscopy, etc.) as well as neurosignal data (EEG, fMRI, MEG, EGG, eye tracking, etc.) and Evaluated Data.
Initial Share Date

Initial Submission and Initial Share dates should be populated according to the NDA Data Sharing Terms and Conditions. Any modifications to these will go through the approval processes outlined above. Data will be shared with authorized users upon publication (via an NDA Study) or 1-2 years after the grant end date specified on the first Notice of Award, as defined in the applicable Data Sharing Terms and Conditions.
Initial Submission Date

Initial Submission and Initial Share dates should be populated according to these NDA Data Sharing Terms and Conditions. Any modifications to these will go through the approval processes outlined above. Data for all subjects is not expected on the Initial Submission Date and modifications may be made as necessary based on the project's conduct.
Research Subject and Pedigree

An NDA created Data Structure used to convey basic information about the subject such as demographics, pedigree (links family GUIDs), diagnosis/phenotype, and sample location that are critical to allow for easier querying of shared data.
Submission Cycle

The NDA has two Submission Cycles per year - January 15 and July 15.
Submission Exemption

An interface to notify NDA that data may not be submitted during the upcoming/current submission cycle.

Contact NDA Help Desk

Collection Owners and those with Collection Administrator permission, may edit a collection. The following is currently available for Edit on this page:

Associated Studies

Studies that have been defined using data from a Collection are important criteria to determine the value of data shared. The number of subjects column displays the counts from this Collection that are included in a Study, out of the total number of subjects in that study. The Data Use column represents whether or not the study is a primary analysis of the data or a secondary analysis. State indicates whether the study is private or shared with the research community.

Study NameFilter by Study Name	AbstractFilter by Abstract	Collection/Study SubjectsFilter by Collection/Study Subjects	Data UsageFilter by Data Usage	StateFilter by State
BSMN Comprehensive Data Collection	Somatic mosaicism is defined as an occurrence of two or more populations of cells having genomic sequences differing at given loci in an individual who is derived from a single zygote. It is a characteristic of multicellular organisms that plays a crucial role in normal development and disease. To study the nature and extent of somatic mosaicism in autism spectrum disorder, bipolar disorder, focal cortical dysplasia, schizophrenia, and Tourette syndrome, a multi-institutional consortium called the Brain Somatic Mosaicism Network (BSMN) was formed through the National Institute of Mental Health (NIMH). In addition to genomic data of affected and neurotypical brains, the BSMN also developed and validated a best practices somatic single nucleotide variant calling workflow through the analysis of reference brain tissue. These resources, including >400 terabytes of data from over 1150 individuals, are now available to the research community NIMH Data Archive (NDA) and are described here.	107/1087	Secondary Analysis	Shared
BSMN - Commonly Processed Data	Somatic mutations may have causative roles in many diseases and contribute to neuropsychiatric disorders. Here, we conducted whole genome sequencing of 276 human brains, exome sequencing of 390 brains, and whole genome sequencing of 16 PTA (i.e., by primary-template directed) amplified single cells from one brain. The study included neurotipical brains as wells as brains with Tourette Syndrome, Schizophrenia, and Autism Spectrum Disorder. When using this data please acknowledge that the data was produced by the Brain Somatic Mosaicism Network (BSMN) and cite the marker paper using DOI:10.1126/science.aal1641. BSMN portal https://bsmn.synapse.org	107/688	Primary Analysis	Shared
The molecular genetics of Malformations of Cortical Development	In this study, whole-exome sequencing (WES) was used to detect potential somatic mutations causing Malformations of Cortical Development, such as Focal Cortical Dysplasia (FCD), Hemimegalencephaly (HME), Tuberous sclerosis complex (TSC). WES from to the affected brain samples fro surgery and control samples (blood or saliva) were subjected to state-of-the-art detection software and somatic mutations putative to those disorders were detected.	107/107	Primary Analysis	Shared
Comprehensive sequencing of the entire cortex of one human brain to assess local and distributed mosaicism	The structure of the human neocortex underlies species-specific features and is a reflection of intricate developmental programs. Our knowledge of its genesis, however, is limited due to experimental inaccessibility. Here, we analyzed neocortical cellular lineage through a comprehensive assessment of brain somatic mosaicism using deep whole genome sequencing in a single post-mortemhuman brain. To enable analyses of developmental trajectories, we assessed mosaic variants—which act as neutral recordersof lineage history—across 25 anatomic regions and three distinct modalities: bulk geographies, sorted cell types, and single nuclei. Analysis of the 259 confirmed mosaic variants revealed remarkable variability of clonal abundance and spreading. Assessment of sorted populations and single nuclei suggest that stochastic distribution during development is the main driver of clonal dispersion, and that rules regarding cellular lineages and anatomical boundaries are often ignored during embryogenesis. Our work provides a comprehensive analysis of brain somatic mosaicism across the human cerebral cortex, aiding in the understanding of clonal distributions and migration patterns in the human embryo.	1/1	Primary Analysis	Shared

* Data not on individual level

helpcenter.collection.associated-studies-tab

Collection - Associated Studies

Clicking on the Study Title will open the study details in a new internet browser tab. The Abstract is available for viewing, providing the background explanation of the study, as provided by the Collection Owner.

Primary v. Secondary Analysis: The Data Usage column will have one of these two choices. An associated study that is listed as being used for Primary Analysis indicates at least some and potentially all of the data used was originally collected by the creator of the NDA Study. Secondary Analysis indicates the Study owner was not involved in the collection of data, and may be used as supporting data.

Private v. Shared State: Studies that remain private indicate the associated study is only available to users who are able to access the collection. A shared study is accessible to the general public.

Frequently Asked Questions

How do I associate a study to my collection?

Studies are associated to the Collection automatically when the data is defined in the Study.

Glossary

Associated Studies Tab

A tab in a Collection that lists the NDA Studies that have been created using data from that Collection including both Primary and Secondary Analysis NDA Studies.

Contact NDA Help Desk

Edit

Choose File:	Select File
File Type:
Description:

Exemption Type*
From Date*
To Date*
Reason*	Characters Remaining:

Disclaimer

Filter Cart

Frequently Asked Questions

Glossary