Documentation

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Publication Details

Results for Chen2017a:

Summary

Title	Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype
Authors	Chen, L., Jensik, P.J., Alaimo, J.T., Walkiewicz, M., Berger, S., Roeder, E., Faqeih, E.A., Bernstein, J.A., Smith, A.C.M., Mullegama, S.V., Saffen, D.W., Elsea, S.H
Technology	Targeted sequencing, clinical exome sequencing
Variant source	Table 1 and 2
Cohorts	Baylor Genetics
Design	Simplex
URL	https://dx.doi.org/10.1002/humu.23339
Pubmed	28940898
Subject count	5 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	5
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonframeshift deletion	1
nonsynonymous SNV	4

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.