USING RELATIVES' INFORMATION TO DETERMINE GENETIC RISK FOR NON-MENDELIAN PHENOTYPES

摘要

Provided are methods for outputting a non-Mendelian risk score, comprising: receiving from a first dataset (i) genotype data for a subject and (ii) genotype data and phenotype data for one or more blood relatives of a subject having a gene of interest; receiving from a second dataset genotype population data and phenotype population data, wherein the population comprises two or more blood relatives; training a model on the first and second datasets to determine a genetic risk in the subject associated with one or more non-Mendelian gene of interest; and outputting a phenotypic risk score for the subject. Also provided are systems and non-transitory machine-readable media for outputting a polygenic risk score for a subject.