Documentation

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Publication Details

Results for Iossifov2012:

Summary

Title	De Novo Gene Disruptions in Children on the Autistic Spectrum
Authors	Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y., Narzisi, G., Leotta, A., Kendall, J., Grabowska, E., Ma, B., Marks, S., Rodgers, L., Stepansky, A., Troge, J., Andrews, P., Bekritsky, M., Pradhan, K., Ghiban,
Technology	Whole exome sequencing
Variant source	Table S1. Complete List of SNVs Detected in 343 SSC Families; Table S3. Complete List of Indel Variants Detected in 343 SSC Families
Cohorts	Simons Simplex Collection
Design	Simplex
URL	https://dx.doi.org/10.1016/j.neuron.2012.04.009
Pubmed	22542183
Subject count	243 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	444
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	20
frameshift insertion	10
nonframeshift deletion	7
nonsynonymous SNV	205
other	85
splicing	7
stopgain	22
stoploss	1
synonymous SNV	84
unknown	3

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.