PEMapper and PECaller provide a simplified approach to whole-genome sequencing

H. Richard Johnston, Pankaj Chopra, Thomas S. Wingo, Viren Patel, Michael P. Epstein, Jennifer G. Mulle, Stephen T. Warren*, Michael E. Zwick*, Inter Consortium Brain Behav 22q11, Thérèse van Amelsvoort, David J. Cutler*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)E1923-E1932
Number of pages10
JournalProceedings of the National Academy of Sciences of the United States of America
Volume114
Issue number10
DOIs
Publication statusPublished - 7 Mar 2017

Keywords

  • genome sequencing
  • GATK
  • sequence mapping
  • SNP calling
  • software
  • 22Q11.2 DELETION SYNDROME
  • EXOME VARIANTS
  • GENERATION
  • SCHIZOPHRENIA
  • FRAMEWORK
  • ALIGNMENT
  • HUMANS
  • NUMBER
  • TOOLS
  • RISK

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