Op-cbio130491 2744..2749

نویسندگان

  • Qing Duan
  • Eric Yi Liu
  • Paul L. Auer
  • Guosheng Zhang
  • Ethan M. Lange
  • Chris Bizon
  • Shuo Jiao
  • Steven Buyske
  • Nora Franceschini
  • Chris S. Carlson
  • Li Hsu
  • Alex P. Reiner
  • Ulrike Peters
  • Jeffrey Haessler
  • Keith Curtis
  • Christina L. Wassel
  • Jennifer G. Robinson
  • Lisa W. Martin
  • Christopher A. Haiman
  • Loic Le Marchand
  • Tara C. Matise
  • Lucia A. Hindorff
  • Dana C. Crawford
  • Themistocles L. Assimes
  • Hyun Min Kang
  • Gerardo Heiss
  • Rebecca D. Jackson
  • Charles Kooperberg
  • James G. Wilson
  • Gonçalo R. Abecasis
  • Kari E. North
  • Deborah A. Nickerson
  • Leslie A. Lange
  • Yun Li
  • Jeffrey Barrett
چکیده

Summary: Although the 1000 Genomes haplotypes are the most commonly used reference panel for imputation, medical sequencing projects are generating large alternate sets of sequenced samples. Imputation in African Americans using 3384 haplotypes from the Exome Sequencing Project, compared with 2184 haplotypes from 1000 Genomes Project, increased effective sample size by 8.3–11.4% for coding variants with minor allele frequency 51%. No loss of imputation quality was observed using a panel built from phenotypic extremes. We recommend using haplotypes from Exome Sequencing Project alone or concatenation of the two panels over quality score-based post-imputation selection or IMPUTE2’s two-

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تاریخ انتشار 2013