Publication Details

Results for Lim2017:

Title Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
AuthorsLim, E.T., Uddin, M., De Rubeis, S., Chan, Y., Kamumbu, A.S., Zhang, X., D’Gama, A.M., Kim, S.N., Hill, R.S., Goldberg, A.P., Poultney, C., Minshew, N.J., Kushima, I., Aleksic, B., Ozaki, N., Parellada, M., Arango, C., Penzol, M.J., Carracedo, A., Kolevzo
TechnologyWhole exome sequencing
Variant sourceSuplementary Table 3: List of all de novo mutations found in the probands and unaffected, Supplementary Table 4 List of all de novo mutations that were validated using the different siblings
CohortsAutism Sequencing Consortium, Simons Simplex Collection, BCH, Broad_v8, Broad_v11, Finnish, Frankfurt, MSSM, Sanger, Upenn, VU
Subject count2285
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 count3462
Curation notesView
Breakdown by exonic function
FunctionVariant Count
nonsynonymous SNV2334
synonymous SNV801

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.