GenomicsbioRxivPreprint
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Scaling accurate genetic variant discovery to tens of thousands of samples
Ryan E. Poplin, Valentín Ruano-Rubio, Mark A. DePristo…·Eric Banks
Per-sample assembly with gVCF output, followed by joint genotyping, lets GATK HaplotypeCaller scale linearly with cohort size while calling indels more accurately than SAMtools, UnifiedGenotyper or Platypus.
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