Documentation

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Publication Details

Results for Woodbury-Smith2022:

Summary

Title	Mutational Landscape of Autism Spectrum Disorder Brain Tissue
Authors	Woodbury-Smith, M., Lamoureux, S., Begum, G., Nassir, N., Akter, H., O’Rielly, D.D., Rahman, P., Wintle, R.F., Scherer, S.W., Uddin, M.
Technology	Whole exome sequencing
Variant source	Supplementary Spreadsheet: Germline – predicteddamaging
Cohorts	Harvard Brain Tissue Resource Center (HBTRC)
Design	simplex
URL	https://dx.doi.org/10.3390/genes13020207
Pubmed	35205252
Subject count	25 The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count	200
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	187
stopgain	7
unknown	6

What am I looking at?

Summary: Information from the literature piece (e.g. Author, Publisher, DOI) and the study experimental design (e.g. sample size, source of probands, sequencing technology.) For a full list of sources of variants, be sure to check out the publications page. Documentation and description of our work can be found on the help page.

Breakdown by exonic function: We annotated the variants with an effect prediction using ANNOVAR. The functions are categories of variants, such as frameshift variants (i.e. frameshift_elongation (SO:0001909)), loss/gain of stop codon, SNVs and non-frameshift variants. See the full list of possible annotations for exonic variants in the documentation.