Scalable Summary Statistics-Based Heritability Estimation Method with Individual Genotype Level Accuracy

Moonseong Jeong, Ali Pazokitoroudi, Zhengtong Liu, Sriram Sankararaman

Abstract: SNP heritability, the proportion of phenotypic variation explained by genotyped SNPs, is an important parameter in understanding the genetic architecture underlying various diseases and traits. Methods that aim to estimate SNP heritability from individual genotype and phenotype data are limited by their ability to scale to Biobank-scale datasets and by the restrictions in access to individual-level data. These limitations have motivated the development of methods that only require summary statistics. While the availability of publicly accessible summary statistics makes them widely applicable, these methods lack the accuracy of methods that utilize individual genotypes.