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Annotated VCF Files for WGS of ASD Cohort with 68 Individuals from 22 families, enriched for recent shared ancestry

We performed whole genome sequencing (WGS) in an ASD cohort of 68 individuals from 22 families enriched for recent shared ancestry. Samples were sequenced using Illumina HiSeq X platform, and Variants (single nucleotide variants (SNVs) and insertions or deletions (indels)) were detected using GATK with HaplotypeCaller. Quality control checks for (i) duplicate samples, (ii) samples per platform, (iii) genome call rate, (iv) missingness rate, (v) singleton rate, (vi) heterozygosity rate, (vii) homozygosity rate, (viii) Ti/Tv ratio, (ix) inbreeding coefficient, and (x) sex inference were performed as previously described. Variant call format (VCF) files for SNVs and indels were annotated with ANNOVAR using allele frequencies from the 1000 Genomes project (2015; 1000G), the Genome Aggregation Database (gnomAD), and the Greater Middle East Variome Project (GME).

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This agreement governs the terms on which access will be granted to the whole genome sequence data generated and published in this study: Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants, Tuncay et al., npj Genomic Medicine, 2022. In signing this agreement, you are agreeing to be bound by the terms and conditions of access set out in this agreement. For the sake of clarity, the terms of access set out in this agreement apply both to the User and the User’s Institution (as defined below). User Institution and User are referred to within the agreement as “you” and “your” shall be construed accordingly.

Definitions: Data means all and any human genetic data obtained under this Database Access Agreement. Data Subject means a person, who has been informed of the purpose for which the Data is held and has given his/her informed consent thereto. User means a researcher whose User Institution has previously completed this Data Access Agreement and has received acknowledgement of its acceptance. Publications means, without limitation, articles published in print journals, electronic journals, reviews, books, posters, and other written and verbal presentations of research performed using the Data. User Institution means the organization at which the User is employed, affiliated with, or enrolled. Terms and Conditions: In signing this Agreement: 1. You agree to use the Data only for the advancement of medical research in accordance with the approved proposal that you submitted unless otherwise required by law. 2. You agree not to use the Data for the creation of products for sale or for any commercial purpose, without the prior negotiation of a commercial license with the University of Texas Southwestern Medical Center. 3. You agree to preserve, at all times, the confidentiality of information and Data pertaining to Data Subjects. In particular, you undertake not to use, or attempt to use, the Data to compromise or otherwise infringe the confidentiality of information on Data Subjects and their right to privacy. You agree that you will not use the Data to re-identify any individual. 4. You agree not to attempt to link the Data provided under this agreement to other information or archive data available for the data sets provided, even if access to that data has been formally granted to you, or it is freely available without restriction, without specific permission being sought from the relevant access committees. 5. You agree not to transfer or disclose the Data, in whole or part, or any identifiable material derived from the Data, to others, except as necessary for data/safety monitoring or program management. Should you wish to share the Data with a collaborator from another institution, that third party must make a separate application for access to the Data. 6. You agree to use the Data for the approved purpose and project described in your application. Use of the Data for a new purpose or project will require a new application and approval. 7. You accept that Data will be reissued from time to time, with suitable versioning. If the reissue is at the request of sample donors and/or other ethical scrutiny, you will destroy earlier versions of the Data. 8. You agree to abide by the terms outlined in the “Publications Policy”, as set out in Schedule 1. 9. You accept that the University of Texas Southwestern Medical Center and The Hospital for Sick Children, the original data creators, depositors or copyright holders, or the funders of the Data or any part of the Data supplied: a) bear no legal responsibility for the accuracy or comprehensiveness of the Data; and b) accept no liability for indirect, consequential, or incidental damages or losses arising from use of the Data, or from the unavailability of, or break in access to, the Data for whatever reason. 11. You understand and acknowledge that the Data is protected by copyright and other intellectual property rights, and that duplication, except as reasonably required to carry out your research with the Data, or sale of all or part of the Data on any media is not permitted. 12. You recognize that nothing in this agreement shall operate to transfer to the User Institution any intellectual property rights relating to the Data. The User Institution has the right to develop intellectual property based on comparisons with their own data. 13. You accept that this agreement will terminate immediately upon any breach of this agreement by you and you will be required to destroy any Data held. 14. You accept that it may be necessary for the University of Texas Southwestern Medical Center, The Hospital for Sick Children, or their appointed agents to alter the terms of this agreement from time to time in order to address new concerns. In this event, the University of Texas Southwestern Medical Center, The Hospital for Sick Children, or their appointed agent will notify you of any changes, and you agree that your continued use of the Data shall be dependent on the parties entering into a new version of the Agreement. 15. You agree that you will submit a report to the University of Texas Southwestern Medical Center, if requested, on completion of the agreed purpose. The University of Texas Southwestern Medical Center agrees to treat the report and all information, data, results, and conclusions contained within such a report as confidential information belonging to the User Institution. 16. You accept that the Data are protected by and subject to laws in various international jurisdictions, including without limitation laws in the USA, EAA, and Canada, and that you are responsible for ensuring compliance with any such applicable law. The Data Access Committee reserves the right to request and inspect data security and management documentation to ensure the adequacy of data protection measures in countries that have no national laws comparable to that which pertain in the USA, EAA, and Canada. 17. Any legal action, claim or other legal proceeding commenced by one party hereto against another party, arising out of this Agreement, shall be commenced in the courts of the jurisdiction in which the responding party is situated; and for the purposes of such proceeding, this Agreement shall be governed by, and shall be interpreted, construed, and enforced, in accordance with the laws of that same jurisdiction. SCHEDULE 1 Publications Policy The University of Texas Southwestern Medical Center anticipates that data generated from the project will be used by others, such as required for developing new analytical methods, in understanding patterns of polymorphism, and in guiding selection of genomic regions harboring genes involved in autism spectrum disorder and related disorders. Authors who use data from the project must include an acknowledgement using the following wording "This study makes use of data generated by the laboratory of Dr. Maria Chahrour at the University of Texas Southwestern Medical Center and by the Autism Speaks MSSNG Project, including The Hospital for Sick Children (Toronto)." and cite the relevant publication: Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants, Tuncay et al., npj Genomic Medicine, 2022. Users should note that the University of Texas Southwestern Medical Center and The Hospital for Sick Children bear no responsibility for the further analysis or interpretation of these data, over and above that published by the University of Texas Southwestern Medical Center and/or The Hospital for Sick Children. For and on behalf of User: Name of Applicant: _____________________________________ _____________________________________ _____________________________________ Signature of Applicant(s): _____________________________________ _____________________________________ _____________________________________ Date: _____________________________________ For and on behalf of User Institution: Signature of Institutional or Administrative Authority: ______________________________________ Print name: ______________________________________ User Institution: ______________________________________ Date: ______________________________________ WHEN SUBMITTING THIS DOCUMENT, PLEASE INCLUDE ALL PAGES OF THE AGREEMENT WITH THIS SIGNATURE PAGE

Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00005858407 1645827744237 219.8 MB
EGAF00005858408 1645827744237 219.1 MB
EGAF00005858409 1645827744237 223.1 MB
EGAF00005858410 1645827744237 220.4 MB
EGAF00005858411 1645827744238 219.7 MB
EGAF00005858412 1645827744232 215.2 MB
EGAF00005858413 1645827744232 210.7 MB
EGAF00005858414 1645827744233 215.4 MB
EGAF00005858415 1645827744233 218.5 MB
EGAF00005858416 1645827744233 217.8 MB
EGAF00005858417 1645827744233 213.3 MB
EGAF00005858418 1645827744234 221.0 MB
EGAF00005858419 1645827744230 213.7 MB
EGAF00005858420 1645827744231 216.4 MB
EGAF00005858421 1645827744231 224.1 MB
EGAF00005858422 1645827744231 221.8 MB
EGAF00005858423 1645827744231 216.1 MB
EGAF00005858424 1645827744232 215.5 MB
EGAF00005858425 1645827744232 212.4 MB
EGAF00005858426 1645827744232 217.2 MB
EGAF00005858427 1645827744226 215.8 MB
EGAF00005858428 1645827744227 222.0 MB
EGAF00005858429 1645827744227 215.1 MB
EGAF00005858430 1645827744228 221.3 MB
EGAF00005858431 1645827744228 216.6 MB
EGAF00005858432 1645827744228 218.0 MB
EGAF00005858433 1645827744228 221.6 MB
EGAF00005858434 1645827744229 217.9 MB
EGAF00005858435 1645827744229 206.4 MB
EGAF00005858436 1645827744229 209.7 MB
EGAF00005858437 1645827744229 215.2 MB
EGAF00005858438 1645827744229 214.9 MB
EGAF00005858439 1645827744230 216.2 MB
EGAF00005858440 1645827744230 221.2 MB
EGAF00005858441 1645827744230 219.7 MB
EGAF00005858442 1645827744230 214.6 MB
EGAF00005858443 1645827744236 221.4 MB
EGAF00005858444 1645827744236 221.1 MB
EGAF00005858445 1645827744236 216.1 MB
EGAF00005858446 1645827744236 210.3 MB
EGAF00005858447 1645827744237 215.4 MB
EGAF00005858448 1645827744237 221.3 MB
EGAF00005858449 1645827744237 208.6 MB
EGAF00005858450 1645827744225 205.9 MB
EGAF00005858451 1645827744240 211.8 MB
EGAF00005858452 1645827744241 205.9 MB
EGAF00005858453 1645827744241 211.6 MB
EGAF00005858454 1645827744241 213.6 MB
EGAF00005858455 1645827744242 223.0 MB
EGAF00005858456 1645827744242 211.4 MB
EGAF00005858457 1645827744242 216.5 MB
EGAF00005858458 1645827744234 204.8 MB
EGAF00005858459 1645827744234 211.6 MB
EGAF00005858460 1645827744235 216.7 MB
EGAF00005858461 1645827744235 210.7 MB
EGAF00005858462 1645827744235 215.5 MB
EGAF00005858463 1645827744235 217.6 MB
EGAF00005858464 1645827744236 214.9 MB
EGAF00005858465 1645827744236 212.7 MB
EGAF00005858466 1645827744234 214.2 MB
EGAF00005858467 1645827744234 211.9 MB
EGAF00005858468 1645827744234 200.4 MB
EGAF00005858469 1645827744235 223.7 MB
EGAF00005858470 1645827744235 205.0 MB
EGAF00005858471 1645827744235 212.7 MB
EGAF00005858472 1645827744235 210.2 MB
EGAF00005858473 1645827744235 210.6 MB
EGAF00005858474 1645827744232 210.6 MB
EGAF00005858475 1645827744232 1.6 MB
EGAF00005858476 1645827744233 1.7 MB
EGAF00005858477 1645827744233 1.6 MB
EGAF00005858478 1645827744233 1.6 MB
EGAF00005858479 1645827744233 1.7 MB
EGAF00005858480 1645827744234 1.7 MB
EGAF00005858481 1645827744231 1.6 MB
EGAF00005858482 1645827744231 1.6 MB
EGAF00005858483 1645827744232 1.7 MB
EGAF00005858484 1645827744232 1.7 MB
EGAF00005858485 1645827744232 1.7 MB
EGAF00005858486 1645827744232 1.6 MB
EGAF00005858487 1645827744232 1.6 MB
EGAF00005858488 1645827744233 1.6 MB
EGAF00005858489 1645827744225 1.7 MB
EGAF00005858490 1645827744226 1.7 MB
EGAF00005858491 1645827744226 1.7 MB
EGAF00005858492 1645827744227 1.6 MB
EGAF00005858493 1645827744240 1.7 MB
EGAF00005858494 1645827744240 1.6 MB
EGAF00005858495 1645827744241 1.7 MB
EGAF00005858496 1645827744241 1.6 MB
EGAF00005858497 1645827744233 1.6 MB
EGAF00005858498 1645827744233 1.7 MB
EGAF00005858499 1645827744233 1.6 MB
EGAF00005858500 1645827744234 1.6 MB
EGAF00005858501 1645827744234 1.7 MB
EGAF00005858502 1645827744234 1.7 MB
EGAF00005858503 1645827744234 1.7 MB
EGAF00005858504 1645827744234 1.6 MB
EGAF00005858505 1645827744230 1.6 MB
EGAF00005858506 1645827744231 1.7 MB
EGAF00005858507 1645827744231 1.6 MB
EGAF00005858508 1645827744231 1.6 MB
EGAF00005858509 1645827744231 1.7 MB
EGAF00005858510 1645827744232 1.6 MB
EGAF00005858511 1645827744232 1.6 MB
EGAF00005858512 1645827744232 1.6 MB
EGAF00005858513 1645827744230 1.7 MB
EGAF00005858514 1645827744230 1.7 MB
EGAF00005858515 1645827744230 1.7 MB
EGAF00005858516 1645827744230 1.7 MB
EGAF00005858517 1645827744230 1.7 MB
EGAF00005858518 1645827744231 1.7 MB
EGAF00005858519 1645827744231 1.7 MB
EGAF00005858520 1645827744231 1.6 MB
EGAF00005858521 1645827744225 1.6 MB
EGAF00005858522 1645827744226 1.6 MB
EGAF00005858523 1645827744226 1.7 MB
EGAF00005858524 1645827744227 1.7 MB
EGAF00005858525 1645827744227 1.6 MB
EGAF00005858526 1645827744227 1.6 MB
EGAF00005858527 1645827744227 1.7 MB
EGAF00005858528 1645827744228 1.6 MB
EGAF00005858529 1645827744228 1.6 MB
EGAF00005858530 1645827744228 1.7 MB
EGAF00005858531 1645827744228 1.7 MB
EGAF00005858532 1645827744229 1.6 MB
EGAF00005858533 1645827744229 1.7 MB
EGAF00005858534 1645827744229 1.7 MB
EGAF00005858535 1645827744229 1.7 MB
EGAF00005858536 1645827744229 1.7 MB
EGAF00005858537 1645827744233 1.7 MB
EGAF00005858538 1645827744233 1.6 MB
EGAF00005858539 1645827744234 1.7 MB
EGAF00005858540 1645827744234 1.6 MB
EGAF00005858541 1645827744234 1.7 MB
EGAF00005858542 1645827744234 1.6 MB
136 Files (14.7 GB)