Publication Details

Results for Tammimies2015:

Title Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder
AuthorsTammimies, 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
TechnologyWhole exome sequencing
Variant sourceSupplementary 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
CohortsNewfoundland and Labrador
Subject count55
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 count96
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion2
frameshift insertion1
nonframeshift deletion1
nonsynonymous SNV57
synonymous SNV27

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.