Documentation

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Publication Details

Results for Lowther2023:

Summary

Title	Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
Authors	Lowther, C., Valkanas, E., Giordano, J.L., Wang, H.Z., Currall, B.B., O’Keefe, K., Pierce-Hoffman, E., Kurtas, N.E., Whelan, C.W., Hao, S.P., Weisburd, B., Jalili, V., Fu, J., Wong, I., Collins, R.L., Zhao, X., Austin-Tse, C.A., Evangelista, E., Lemire, G., Aggarwal, V.S., Lucente, D., Gauthier, L.D., Tolonen, C., Sahakian, N., Stevens, C., An, J.-Y., Dong, S., Norton, M.E., MacKenzie, T.C., Devlin, B., Gilmore, K., Powell, B.C., Brandt, A., Vetrini, F., DiVito, M., Sanders, S.J., MacArthur, D.G., Hodge, J.C., O’Donnell-Luria, A., Rehm, H.L., Vora, N.L., Levy, B., Brand, H., Wapner, R.J., Talkowski, M.E.
Technology	WGS
Variant source	Table S10
Cohorts	Simons Simplex Collection
Design	simplex
URL	https://dx.doi.org/10.1016/j.ajhg.2023.07.010
Pubmed	37595579
Subject count	49 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	51
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	16
frameshift insertion	9
nonsynonymous SNV	5
splicing	7
stopgain	14

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.