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).
- 1 sample
- DAC: EGAC00001002558
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- US DUO:0000026 (version: 2021-02-23)user specific restrictionThis data use modifier indicates that use is limited to use by approved users.
- PS DUO:0000027 (version: 2021-02-23)project specific restrictionThis data use modifier indicates that use is limited to use within an approved project.
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.
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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. 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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 |
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EGAS00001006058 | 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.