Documentation

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Publication Details

Results for Helsmoortel2014:

Summary

Title	A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
Authors	Helsmoortel, C., Vulto-van Silfhout, A.T., Coe, B.P., Vandeweyer, G., Rooms, L., van den Ende, J., Schuurs-Hoeijmakers, J.H.M., Marcelis, C.L., Willemsen, M.H., Vissers, L.E.L.M., Yntema, H.G., Bakshi, M., Wilson, M., Witherspoon, K.T., Malmgren, H., Nord
Technology	Whole exome sequencing, molecular inversion probes, high-resolution melting
Variant source	Table 1: Summary of mutations, detection methods and cohorts compositions for the reported patients
Cohorts	Multiple Sources
Design	Case-control
URL	https://dx.doi.org/10.1038/ng.2899
Pubmed	24531329
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	10
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	5
stopgain	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.