Publication Details

Results for Stessman2017:

Title Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
AuthorsStessman, H.A.F., Xiong, B., Coe, B.P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., Vives, L., Lin, J., Turner, T.N., Santen, G., Ruivenkamp, C., Kriek, M., van Haeringen, A., Aten, E., Friend, K., Liebelt, J.,
TechnologyTargeted sequencing (208 genes)
Variant sourceSupplementary Table 11. All private LGD and MIS30 events in this study, Supplementary Table 12. All DN smMIP events identified in the 208 genes screened in this study.
CohortsAutism Clinical and Genetic Resources in China, Autism Genetic Resource Exchange, Autism Phenome Project, Leuven, Melbourne, Murdoch, San Diego, The Autism Simplex Collection
Subject count684
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 count732
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion72
frameshift insertion21
frameshift substitution4
nonframeshift substitution6
nonsynonymous SNV482
synonymous SNV2

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.