Mid-pass whole genome sequencing enables biomedical genetic studies of diverse populations.
Anne-Katrin EmdeAmanda Phipps-GreenMurray CadzowC Scott GallagherTanya J MajorMarilyn E MerrimanRuth K ToplessRiku TakeiNicola DalbethRinki MurphyLisa K StampJanak de ZoysaPhilip L WilcoxKeolu FoxKaja A WasikTony R MerrimanStephane E CastelPublished in: BMC genomics (2021)
Compared to array data imputed into 1000 Genomes, mid-pass performed better across all metrics and identified novel population-specific variants with potential disease relevance. We hope our work will reduce financial barriers for geneticists from underrepresented populations to characterize their genomes prior to biomedical genetic applications.