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

Research Grants

  1. COMMON AND RARE SEQUENCE VARIANTS IN BREAST CANCER RISK
    SEAN VAHRAM TAVTIGIAN; Fiscal Year: 2010

Collaborators

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

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...

Research Grants1

  1. COMMON AND RARE SEQUENCE VARIANTS IN BREAST CANCER RISK
    SEAN VAHRAM TAVTIGIAN; Fiscal Year: 2010
    ....