SEAN VAHRAM TAVTIGIAN
Affiliation: University of Utah
- FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasetsBernard 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...
- Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2Tú 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...
- Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening studyFlorence 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...
- COMMON AND RARE SEQUENCE VARIANTS IN BREAST CANCER RISKSEAN VAHRAM TAVTIGIAN; Fiscal Year: 2010....