Documentation

or

Publication Details

Results for Dong2014:

Summary

Title	De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder
Authors	Dong, 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
Technology	Whole exome sequencing
Variant source	Table S2. List of 146 Confirmed De Novo Indels and 95 Previously Reported De Novo Indels
Cohorts	Simons Simplex Collection
Design	Simplex
URL	https://dx.doi.org/10.1016/j.celrep.2014.08.068
Pubmed	25284784
Subject count	91 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	95
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	44
frameshift insertion	16
nonframeshift deletion	11
nonframeshift insertion	2
other	17
splicing	2
stopgain	2
stoploss	1

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.