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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 Castel
Published 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.
Keyphrases
  • copy number
  • genome wide
  • high resolution
  • electronic health record
  • genetic diversity
  • high throughput
  • dna methylation
  • gene expression
  • deep learning
  • high density
  • human health
  • data analysis
  • health insurance