Documentation

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Publication Details

Results for Patowary2019:

Summary

Title	Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene
Authors	Patowary, A., Won, S.Y., Oh, S.J., Nesbitt, R.R., Archer, M., Nickerson, D., Raskind, W.H., Bernier, R., Lee, J.E., Brkanac, Z.
Technology	Whole exome sequencing
Variant source	Supplementary Table 2: Private variants shared by the affected cousins of each exome-sequenced family.
Cohorts	NIMH repository
Design	Case-control
URL	https://dx.doi.org/10.1038/s41398-018-0343-z
Pubmed	30664616
Subject count	20 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	144
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	136
stopgain	7
stoploss	1

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.