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Research

Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall

  • William T. Harvey
  • Peter Ebert
  • Jana Ebler
  • Peter A. Audano
  • Katherine M. Munson
  • Kendra Hoekzema David Porubsky
  • ... [+2 authors] ...,
  • Christine R. Beck
  • Tobias Marschall
  • Kiran Garimella
  • Evan E. Eichler
  • First Published December 7, 2023
Resource

Mitochondrial DNA variation across 56,434 individuals in gnomAD

  • Kristen M. Laricchia
  • Nicole J. Lake
  • Nicholas A. Watts
  • Megan Shand
  • Andrea Haessly
  • Laura Gauthier David Benjamin Eric Banks Jose Soto Kiran Garimella James Emery Heidi L. Rehm Daniel G. MacArthur
  • ... [+8 authors] ...,
  • Grace Tiao
  • Monkol Lek
  • Vamsi K. Mootha
  • Sarah E. Calvo
  • First Published January 24, 2022
Resource

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

  • Aaron McKenna
  • Matthew Hanna
  • Eric Banks
  • Andrey Sivachenko
  • Kristian Cibulskis
  • Andrew Kernytsky Kiran Garimella
  • ... [+2 authors] ...,
  • David Altshuler
  • Stacey Gabriel
  • Mark Daly
  • Mark A. DePristo
  • First Published July 19, 2010
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