Documentation

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Publication Details

Results for Ruzzo2019:

Summary

Title	Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks
Authors	Ruzzo, E.K., Pérez-Cano, L., Jung, J.-Y., Wang, L., Kashef-Haghighi, D., Hartl, C., Singh, C., Xu, J., Hoekstra, J.N., Leventhal, O., Leppä, V.M., Gandal, M.J., Paskov, K., Stockham, N., Polioudakis, D., Lowe, J.K., Prober, D.A., Geschwind, D.H., Wall, D.P.
Technology	Whole genome sequencing
Variant source	Multiplex families were sequenced and de novo and inherited variants were recalled using a machine learning algorithm
Cohorts	iHart
Design	Multiplex
URL	https://dx.doi.org/10.1016/j.cell.2019.07.015
Pubmed	28325891
Subject count	790 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	6209
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	1782
frameshift insertion	749
nonframeshift deletion	29
nonsynonymous SNV	157
other	64
splicing	1238
stopgain	2161
stoploss	3
synonymous SNV	1
unknown	25

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.