High-fidelity, large-scale targeted profiling of microsatellites.

ABSTRACT: Microsatellites are highly mutable sequences that can serve as markers for relationships among individuals or cells within a population. The accuracy and resolution of reconstructing these relationships depends on the fidelity of microsatellite profiling and the number of microsatellites profiled. However, current methods for targeted profiling of microsatellites incur significant "stutter" artifacts that interfere with accurate genotyping, and sequencing costs preclude whole-genome microsatellite profiling of a large number of samples. We developed a novel method for accurate and cost-effective targeted profiling of a panel of more than 150,000 microsatellites per sample, along with a computational tool for designing large-scale microsatellite panels. Our method addresses the greatest cha

SUBMITTER: Loh CA 

PROVIDER: S-EPMC11368184 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature