Documentation

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Publication Details

Results for Torti2019:

Summary

Title	Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
Authors	Torti, E., Keren, B., Palmer, E.E., Zhu, Z., Afenjar, A., Anderson, I.J., Andrews, M.V., Atkinson, C., Au, M., Berry, S.A., Bowling, K.M., Boyle, J., Buratti, J., Cathey, S.S., Charles, P., Cogne, B., Courtin, T., Escobar, L.F., Finley, S.L., Graham, J.M., Grange, D.K., Heron, D., Hewson, S., Hiatt, S.M., Hibbs, K.A., Jayakar, P., Kalsner, L., Larcher, L., Lesca, G., Mark, P.R., Miller, K., Nava, C., Nizon, M., Pai, G.S., Pappas, J., Parsons, G., Payne, K., Putoux, A., Rabin, R., Sabatier, I., Shinawi, M., Shur, N., Skinner, S.A., Valence, S., Warren, H., Whalen, S., Crunk, A., Douglas, G., Monaghan, K.G., Person, R.E., Willaert, R., Solomon, B.D., Juusola, J.
Technology	Targeted sequencing
Variant source	Supplementary Table 1 and 2
Cohorts	GeneDx, GeneMatcher
Design	Simplex
URL	https://dx.doi.org/10.1038/s41436-019-0454-9
Pubmed	30739909
Subject count	18 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	27
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	11
frameshift insertion	3
nonsynonymous SNV	5
stopgain	8

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.