Publication Details

Results for Dong2014:

Title De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder
AuthorsDong, S., Walker, M.F., Carriero, N.J., DiCola, M., Willsey, A.J., Ye, A.Y., Waqar, Z., Gonzalez, L.E., Overton, J.D., Frahm, S., Keaney, J.F., Teran, N.A., Dea, J., Mandell, J.D., Bal, V.H., Sullivan, C.A., DiLullo, N.M., Khalil, R.O., Gockley, J., Yukse
TechnologyWhole exome sequencing
Variant sourceTable S2. List of 146 Confirmed De Novo Indels and 95 Previously Reported De Novo Indels
CohortsSimons Simplex Collection
Subject count91
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 count95
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion44
frameshift insertion16
nonframeshift deletion11
nonframeshift insertion2

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.