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Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

  • Valerie A. Schneider
  • Tina Graves-Lindsay
  • Kerstin Howe
  • Nathan Bouk
  • Hsiu-Chuan Chen
  • Paul A. Kitts Terence D. Murphy Kim D. Pruitt Françoise Thibaud-Nissen Derek Albracht Robert S. Fulton Milinn Kremitzki Vincent Magrini Chris Markovic Sean McGrath Karyn Meltz Steinberg Kate Auger William Chow Joanna Collins Glenn Harden Timothy Hubbard Sarah Pelan Jared T. Simpson Glen Threadgold James Torrance Jonathan M. Wood Laura Clarke Sergey Koren Matthew Boitano Paul Peluso Heng Li Chen-Shan Chin Adam M. Phillippy Richard Durbin
  • ... [+29 authors] ...,
  • Richard K. Wilson
  • Paul Flicek
  • Evan E. Eichler
  • Deanna M. Church
  • First Published April 10, 2017
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Improved exome prioritization of disease genes through cross-species phenotype comparison

  • Peter N. Robinson
  • Sebastian Köhler
  • Anika Oellrich
  • Kai Wang
  • Christopher J. Mungall
  • Suzanna E. Lewis Nicole Washington Sebastian Bauer Dominik Seelow
  • ... [+4 authors] ...,
  • Peter Krawitz
  • Christian Gilissen
  • Melissa Haendel
  • Damian Smedley
  • First Published October 25, 2013
Resource

SOAPindel: Efficient identification of indels from short paired reads

  • Shengting Li
  • Ruiqiang Li
  • Heng Li
  • Jianliang Lu
  • Yingrui Li
  • Lars Bolund
  • Mikkel H. Schierup
  • Jun Wang
  • First Published September 12, 2012
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