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

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

Cite this

Johnston, H. R., Chopra, P., Wingo, T. S., Patel, V., Epstein, M. P., Mulle, J. G., Warren, S. T., Zwick, M. E., Inter Consortium Brain Behav 22q11, van Amelsvoort, T., & Cutler, D. J. (2017). PEMapper and PECaller provide a simplified approach to whole-genome sequencing. Proceedings of the National Academy of Sciences of the United States of America, 114(10), E1923-E1932. https://doi.org/10.1073/pnas.1618065114