Documentation

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Publication Details

Results for Yuen2017:

Summary

Title	Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Authors	C Yuen, R.K., Merico, D., Bookman, M., L Howe, J., Thiruvahindrapuram, B., Patel, R.V., Whitney, J., Deflaux, N., Bingham, J., Wang, Z., Pellecchia, G., Buchanan, J.A., Walker, S., Marshall, C.R., Uddin, M., Zarrei, M., Deneault, E., D’Abate, L., Chan, A.
Technology	Whole genome sequencing
Variant source	Supplementary Table 3: All de novo variants detected
Cohorts	Autism Genetic Resource Exchange, Autism Treatment Network, ASD: Genomes to Outcomes Study, Baby Siblings Research Consortium, The Autism Simplex Collection, Infant Sibling Study, The Autism Simplex Collection, Pathways in ASD,
Design	Simplex/Multiplex
URL	https://dx.doi.org/10.1038/nn.4524
Pubmed	28263302
Subject count	1627 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	140304
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	69
frameshift insertion	32
nonframeshift deletion	46
nonframeshift insertion	4
nonsynonymous SNV	1271
other	138250
splicing	38
stopgain	72
stoploss	3
synonymous SNV	495
unknown	24

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.