Documentation

or

Publication Details

Results for Doan2019:

Summary

Title	Recessive gene disruptions in autism spectrum disorder
Authors	Doan, R.N., Lim, E.T., Rubeis, S.D., Betancur, C., Cutler, D.J., Chiocchetti, A.G., Overman, L.M., Soucy, A., Goetze, S., Freitag, C.M., Daly, M.J., Walsh, C.A., Buxbaum, J.D., Yu, T.W.
Technology	Whole Exome sequencing
Variant source	Supplementary Table 10 and 12
Cohorts	Autism Sequencing Consortium (ASC)
Design	Simplex, Case control
URL	https://dx.doi.org/10.1038/s41588-019-0433-8
Pubmed	31209396
Subject count	50 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	68
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	13
splicing	27
stopgain	28

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.