or
or
Exact

Publication Details

Results for Turner2017:

Summary
Title Genomic Patterns of De Novo Mutation in Simplex Autism
AuthorsTurner, T.N., Coe, B.P., Dickel, D.E., Hoekzema, K., Nelson, B.J., Zody, M.C., Kronenberg, Z.N., Hormozdiari, F., Raja, A., Pennacchio, L.A., Darnell, R.B., Eichler, E.E.
TechnologyWhole genome sequencing, whole exome sequencing
Variant sourceTable S2
CohortsSimons Simplex Collection
DesignSimplex
URLhttps://dx.doi.org/10.1016/j.cell.2017.08.047
Pubmed28965761
Subject count41
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 count43
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion3
nonframeshift deletion1
nonsynonymous SNV28
other1
splicing5
stopgain4
unknown1

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.