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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
AuthorsSanchis-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-Fern√°ndez, 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.
TechnologyWGS
Variant sourceTable S2
CohortsNational Institute for Health and Care Research BioResource project
Designsimplex
URLhttps://dx.doi.org/10.1016/j.ajhg.2023.07.007
Pubmed37541188
Subject count12
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 count13
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift insertion2
nonsynonymous SNV6
splicing2
stopgain3

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.