Publication Details

Results for Lowther2023:

Title Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
AuthorsLowther, 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.
Variant sourceTable S10
CohortsSimons Simplex Collection
Subject count49
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 count51
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion16
frameshift insertion9
nonsynonymous SNV5

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.