Publication Details

Results for Fu2022:

Title Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
AuthorsFu, J.M., Satterstrom, F.K., Peng, M., Brand, H., Collins, R.L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S.P., Stevens, C.R., Cusick, C., Babadi, M., Banks, E., Collins, B., Dodge, S., Gabriel, S.B., Gauthier, L., Lee, S.K., Liang, L., Ljungdahl, A., Mahjani, B., Sloofman, L., Smirnov, A.N., Barbosa, M., Betancur, C., Brusco, A., Chung, B.H.Y., Cook, E.H., Cuccaro, M.L., Domenici, E., Ferrero, G.B., Gargus, J.J., Herman, G.E., Hertz-Picciotto, I., Maciel, P., Manoach, D.S., Passos-Bueno, M.R., Persico, A.M., Renieri, A., Sutcliffe, J.S., Tassone, F., Trabetti, E., Campos, G., Cardaropoli, S., Carli, D., Chan, M.C.Y., Fallerini, C., Giorgio, E., Girardi, A.C., Hansen-Kiss, E., Lee, S.L., Lintas, C., Ludena, Y., Nguyen, R., Pavinato, L., Pericak-Vance, M., Pessah, I.N., Schmidt, R.J., Smith, M., Costa, C.I.S., Trajkova, S., Wang, J.Y.T., Yu, M.H.C., Autism Sequencing Consortium (ASC), Broad Institute Center for Common Disease Genomics (Broad-CCDG), iPSYCH-BROAD Consortium, Cutler, D.J., De Rubeis, S., Buxbaum, J.D., Daly, M.J., Devlin, B., Roeder, K., Sanders, S.J., Talkowski, M.E.
TechnologyWhole exome sequencing
Variant sourceSupplementary Table 20: The de novo SNV/indel variants used in TADA association analyses from assembled ASD cohorts
CohortsAutism Sequencing Consortium (ASC), Simons Simplex Collection (SSC), Simons Foundation Powering Autism Research for Knowledge (SPARK)
Subject count11936
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 count26143
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion653
frameshift insertion304
nonframeshift deletion204
nonframeshift insertion79
nonsynonymous SNV11202
synonymous SNV4371

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.