TY - JOUR AU - Homburger, Julian R. AU - Neben, Cynthia L. AU - Mishne, Gilad AU - Zhou, Alicia Y. AU - Kathiresan, Sekar AU - Khera, Amit V. PY - 2019 DA - 2019/11/26 TI - Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores JO - Genome Medicine SP - 74 VL - 11 IS - 1 AB - Inherited susceptibility to common, complex diseases may be caused by rare, pathogenic variants (“monogenic”) or by the cumulative effect of numerous common variants (“polygenic”). Comprehensive genome interpretation should enable assessment for both monogenic and polygenic components of inherited risk. The traditional approach requires two distinct genetic testing technologies—high coverage sequencing of known genes to detect monogenic variants and a genome-wide genotyping array followed by imputation to calculate genome-wide polygenic scores (GPSs). We assessed the feasibility and accuracy of using low coverage whole genome sequencing (lcWGS) as an alternative to genotyping arrays to calculate GPSs. SN - 1756-994X UR - https://doi.org/10.1186/s13073-019-0682-2 DO - 10.1186/s13073-019-0682-2 ID - Homburger2019 ER -