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Comparison of sequencing data processing pipelines and application to underrepresented African human populations.

Gwenna BretonAnna C V JohanssonPer SjödinCarina M SchlebuschMattias Jakobsson
Published in: BMC bioinformatics (2021)
We conclude that applying the GATK "Best Practices" pipeline, including their recommended reference datasets, to underrepresented populations does not lead to a decrease in the number of called variants compared to alternative pipelines. We recommend to aim for coverage of > 30X if identifying most variants is important, and to work with large sample sizes at the variant calling stage, also for underrepresented individuals and populations.
Keyphrases
  • copy number
  • endothelial cells
  • genetic diversity
  • healthcare
  • primary care
  • single cell
  • rna seq
  • big data
  • health insurance
  • artificial intelligence