Publication Details

Results for Chen2017a:

Title Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype
AuthorsChen, 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
TechnologyTargeted sequencing, clinical exome sequencing
Variant sourceTable 1 and 2
CohortsBaylor Genetics
Subject count5
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 count5
Curation notesView
Breakdown by exonic function
FunctionVariant Count
nonframeshift deletion1
nonsynonymous SNV4

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.