Documentation

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Publication Details

Results for Sanchis-Juan2023:

Summary

Title	Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
Authors	Sanchis-Juan, A., Megy, K., Stephens, J., Armirola Ricaurte, C., Dewhurst, E., Low, K., French, C.E., Grozeva, D., Stirrups, K., Erwood, M., McTague, A., Penkett, C.J., Shamardina, O., Tuna, S., Daugherty, L.C., Gleadall, N., Duarte, S.T., Hedrera-Fernández, A., Vogt, J., Ambegaonkar, G., Chitre, M., Josifova, D., Kurian, M.A., Parker, A., Rankin, J., Reid, E., Wakeling, E., Wassmer, E., Woods, C.G., Raymond, F.L., Carss, K.J.
Technology	WGS
Variant source	Table S2
Cohorts	National Institute for Health and Care Research BioResource project
Design	simplex
URL	https://dx.doi.org/10.1016/j.ajhg.2023.07.007
Pubmed	37541188
Subject count	12 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	13
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift insertion	2
nonsynonymous SNV	6
splicing	2
stopgain	3

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.