Documentation

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Publication Details

Results for Tammimies2015:

Summary

Title	Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder
Authors	Tammimies, K., Marshall, C.R., Walker, S., Kaur, G., Thiruvahindrapuram, B., Lionel, A.C., Yuen, R.K.C., Uddin, M., Roberts, W., Weksberg, R., Woodbury-Smith, M., Zwaigenbaum, L., Anagnostou, E., Wang, Z., Wei, J., Howe, J.L., Gazzellone, M.J., Lau, L., S
Technology	Whole exome sequencing
Variant source	Supplementary Table 4 – Molecular diagnoses (nine variants) identified in eight probands from whole-exome sequencing of 95 probands; Supplementary Table 5 – 96 de novo variants identified and verified in 55 probands from the 95 trios analyzed by whole-exome sequencing
Cohorts	Newfoundland and Labrador
Design	Simplex/Multiplex
URL	https://dx.doi.org/10.1001/jama.2015.10078
Pubmed	26325558
Subject count	55 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	96
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	2
frameshift insertion	1
nonframeshift deletion	1
nonsynonymous SNV	57
splicing	3
stopgain	6
synonymous SNV	27

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.