Genotyping TOMM40'523 Poly-T Polymorphisms Using Whole-Genome Sequencing
Ricardo A. Vialle, Lei Yu, Yan Li, Roberto Tadeu Raittz, José M. Farfel, Philip L. De Jager, Julie A. Schneider, Lisa Laverne Barnes, Shinya Tasaki, David A. Bennett
This paper introduces a computational pipeline for genotyping TOMM40 poly-T polymorphisms from whole-genome sequencing data, achieving high accuracy and consistency with PCR-based genotypes.
Human Genetics and Genomics Advances · Aug 7, 2025Peer-reviewedGenetic & Genomic Medicine