SEAN VAHRAM TAVTIGIAN

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. pmc FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets
    Bernard J Pope
    Victorian Life Sciences Computation Initiative, The University of Melbourne, 187 Grattan Street Carlton, Melbourne, Victoria 3010, Australia
    BMC Bioinformatics 14:65. 2013
  2. pmc Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2
    Tú Nguyen-Dumont
    Genetic Cancer Susceptibility Group, IARC, 69372 Lyon, France
    BMC Med Genomics 4:39. 2011
  3. pmc Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study
    Florence Le Calvez-Kelm
    International Agency for Research on Cancer, 150 cours Albert Thomas, Lyon Cedex 08, F 69372, France
    Breast Cancer Res 13:R6. 2011

Collaborators

  • Tú Nguyen-Dumont
  • Melissa C Southey
  • Florence Le Calvez-Kelm
  • Bernard J Pope
  • Fabienne Lesueur
  • Nathalie Forey
  • Sandrine McKay-Chopin
  • Kayoko Tao
  • David E Goldgar
  • Russell Bell
  • Daniel J Park
  • Andrew Lonie
  • Fabrice Odefrey
  • Fleur Hammet
  • Esther M John
  • Alun Thomas
  • Olga Sinilnikova
  • Maxime Vallée
  • Irene L Andrulis
  • Nivonirina Robinot
  • Geoffroy Durand
  • Francesca Damiola
  • Graham B Byrnes
  • John L Hopper
  • Davit Babikyan
  • Catherine Voegele
  • Jocelyne Michelon
  • Lars P Jordheim

Detail Information

Publications3

  1. pmc FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets
    Bernard J Pope
    Victorian Life Sciences Computation Initiative, The University of Melbourne, 187 Grattan Street Carlton, Melbourne, Victoria 3010, Australia
    BMC Bioinformatics 14:65. 2013
    ..Great challenges remain in resolving genetic variants that are genuine from the millions of artefactual signals...
  2. pmc Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2
    Tú Nguyen-Dumont
    Genetic Cancer Susceptibility Group, IARC, 69372 Lyon, France
    BMC Med Genomics 4:39. 2011
    ..We aimed to assess whether CHEK2 was subject to DAE in lymphoblastoid cell lines (LCLs) from high-risk breast cancer patients for whom no mutation in BRCA1 or BRCA2 had been identified...
  3. pmc Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study
    Florence Le Calvez-Kelm
    International Agency for Research on Cancer, 150 cours Albert Thomas, Lyon Cedex 08, F 69372, France
    Breast Cancer Res 13:R6. 2011
    ..This absence has been due in part to a lack of validated statistical methods for summarizing risk attributable to large numbers of individually rare missense substitutions...