Gene-based scores
On this site, we share gene-based estimates of selection and publication strength. Estimates of selection are described in:
Estimating the Selective Effects of Heterozygous Protein Truncating Variants from Human Exome Data. Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR. Nature Genetics 2017. PubMed, Nature Genetics PDF (via SharedIt), Nature Genetics HTML, bioRxiv pre-print.
A literature review at genome scale: improving clinical variant assessment. Cassa CA, Jordan DM, Adzhubei I, Sunyaev SR. Genetics in Medicine, Accepted October, 2017. bioRxiv pre-print.
Please click on the tabs above to see the available datasets.