Documentation

or

Publication Details

Results for Lim2017:

Summary

Title	Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Authors	Lim, 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
Technology	Whole exome sequencing
Variant source	Suplementary 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
Cohorts	Autism Sequencing Consortium, Simons Simplex Collection, BCH, Broad_v8, Broad_v11, Finnish, Frankfurt, MSSM, Sanger, Upenn, VU
Design	Simplex
URL	https://dx.doi.org/10.1038/nn.4598
Pubmed	28714951
Subject count	2285 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	3462
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	2334
other	48
splicing	76
stopgain	180
synonymous SNV	801
unknown	23

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.