Documentation

or

Publication Details

Results for Cherot2017:

Summary

Title	Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients
Authors	Chérot, E., Keren, B., Dubourg, C., Carré, W., Fradin, M., Lavillaureix, A., Afenjar, A., Burglen, L., Whalen, S., Charles, P., Marey, I., Heide, S., Jacquette, A., Heron, D., Doummar, D., Rodriguez, D., Billette de Villemeur, T., Moutard, M.-L., Guët, A.
Technology	Medical Exome Sequencing
Variant source	ClinVar Accession SUB2218315 and PSL_13jan2017 (SUB2313153)
Cohorts	France
Design	Simplex
URL	https://dx.doi.org/10.1111/cge.13102
Pubmed	28708303
Subject count	4 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	4
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	1
splicing	1
stopgain	2

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.