@genebe/asc

ASC autism case/control exome results

Per-variant case/control burden results from the Autism Sequencing Consortium (ASC), combining the two comparable case/control cohorts published by ASC (SWE, DBS) into one set of ac_case/an_case/ac_ctrl/an_ctrl counts. The ASC_DN de novo trio analysis group is not included, since de novo mutation counts don't have a case/control allele-frequency interpretation.

Source data is originally GRCh37; positions were lifted to GRCh38 with CrossMap before building this database.

Source

ASC browser, variant_results.vcf.bgz (originally GRCh37, lifted to GRCh38 for this database), https://asc.broadinstitute.org/downloads

Citation

Fu JM, Satterstrom FK, Peng M, et al. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nature Genetics. 2022;54:1320-1331. doi:10.1038/s41588-022-01104-0.

Website: https://asc.broadinstitute.org/