Documentation

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Publication Details

Results for D’Gama2015:

Summary

Title	Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms
Authors	D’Gama, A.M., Pochareddy, S., Li, M., Jamuar, S.S., Reiff, R.E., Lam, A.-T.N., Sestan, N., Walsh, C.A.
Technology	Targeted sequencing
Variant source	Table S2: Protein-altering variants identified in ASD cases
Cohorts	Autism BrainNet, SickKids, Harvard, NIH NeuroBioBank
Design	Simplex
URL	https://dx.doi.org/10.1016/j.neuron.2015.11.009
Pubmed	26637798
Subject count	27 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	34
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	1
nonsynonymous SNV	28
splicing	2
stopgain	3

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.