Documentation

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Publication Details

Results for Michaelson2012:

Summary

Title	Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation
Authors	Michaelson, J.J., Shi, Y., Gujral, M., Zheng, H., Malhotra, D., Jin, X., Jian, M., Liu, G., Greer, D., Bhandari, A., Wu, W., Corominas, R., Peoples, Á., Koren, A., Gore, A., Kang, S., Lin, G.N., Estabillo, J., Gadomski, T., Singh, B., Zhang, K., Akshoomof
Technology	Whole genome sequencing
Variant source	Table S1. All 668 Putative DNMs with Notes on Their Validation Status
Cohorts	NIMH Repository and Genomics Resource
Design	Multiplex
URL	https://dx.doi.org/10.1016/j.cell.2012.11.019
Pubmed	23260136
Subject count	10 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	632
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	4
other	622
stopgain	1
synonymous SNV	5

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.