John D McPherson

Summary

Publications

  1. doi request reprint A two-dimensional pooling strategy for rare variant detection on next-generation sequencing platforms
    Philip C Zuzarte
    Genome Technologies, Ontario Institute for Cancer Research, Toronto, Ontario, Canada
    PLoS ONE 9:e93455. 2014
  2. pmc Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer
    Robert C Grant
    Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, M5G 1X5, Canada
    Hum Genomics 7:11. 2013
  3. doi request reprint Next-generation gap
    John D McPherson
    Ontario Institute for Cancer Research, Toronto, Ontario, Canada
    Nat Methods 6:S2-5. 2009

Collaborators

  • Philip C Zuzarte
  • Robert C Grant
  • Gordon Fehringer
  • Robert E Denroche
  • Hagit Katzov-Eckert
  • Rayjean J Hung
  • Treasa McPherson
  • Wigdan Al-Sukhni
  • Stefano Serra
  • Quang M Trinh
  • Emily Whelan
  • Spring Holter
  • Zaheer S Kanji
  • Steven Gallinger
  • Ayelet E Borgida
  • Vanya Peltekova
  • Lincoln D Stein

Detail Information

Publications3

  1. doi request reprint A two-dimensional pooling strategy for rare variant detection on next-generation sequencing platforms
    Philip C Zuzarte
    Genome Technologies, Ontario Institute for Cancer Research, Toronto, Ontario, Canada
    PLoS ONE 9:e93455. 2014
    ..This provides a powerful method for rare variant detection in regions of interest at a reduced cost to the researcher. ..
  2. pmc Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer
    Robert C Grant
    Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, M5G 1X5, Canada
    Hum Genomics 7:11. 2013
    ..Both variants were absent in a relative with FPC. These findings question the causal mechanisms of ATM and PALB2 in these families and highlight challenges in identifying the causes of familial cancer syndromes using exome sequencing...
  3. doi request reprint Next-generation gap
    John D McPherson
    Ontario Institute for Cancer Research, Toronto, Ontario, Canada
    Nat Methods 6:S2-5. 2009
    ..Bridging this gap is essential, or the coveted $1,000 genome will come with a $20,000 analysis price tag...