Publication Details

Results for Michaelson2012:

Title Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation
AuthorsMichaelson, 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
TechnologyWhole genome sequencing
Variant sourceTable S1. All 668 Putative DNMs with Notes on Their Validation Status
CohortsNIMH Repository and Genomics Resource
Subject count10
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 count632
Curation notesView
Breakdown by exonic function
FunctionVariant Count
nonsynonymous SNV4
synonymous SNV5

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.