Documentation

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Publication Details

Results for Callaghan2019:

Summary

Title	Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort
Authors	Callaghan, D.B., Rogic, S., Tan, P.P.C., Calli, K., Qiao, Y., Baldwin, R., Jacobson, M., Belmadani, M., Holmes, N., Yu, C., Li, Yanchen, Li, Yingrui, Kurtzke, F.-E., Kuzeljevic, B., Yu, A.Y., Hudson, M., Mcaughton, A.J.M., Xu, Y., Dionne‐Laporte, A., Gira
Technology	Whole genome sequencing
Variant source	Supplementary Table 6
Cohorts	ASPIRE
Design	Simplex and multiplex
URL	https://dx.doi.org/10.1111/cge.13556
Pubmed	31038196
Subject count	82 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	131
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	26
frameshift insertion	9
nonsynonymous SNV	64
splicing	20
stopgain	11
unknown	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.