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Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? (BMC, 2007-01-01)INTRODUCTION: Many of the DNA sequence variants identified in the breast cancer susceptibility gene BRCA1 remain unclassified in terms of their potential pathogenicity. Both multifactorial likelihood analysis and functional ...
(PUBLIC LIBRARY SCIENCE, 2013-09-26)Next-generation sequencing (NGS) studies in cancer are limited by the amount, quality and purity of tissue samples. In this situation, primary xenografts have proven useful preclinical models. However, the presence of ...
Visualizing Chromosome Mosaicism and Detecting Ethnic Outliers by the Method of "Rare" Heterozygotes and Homozygotes (RHH) (OXFORD UNIV PRESS, 2010-07-01)We describe a novel approach for evaluating SNP genotypes of a genome-wide association scan to identify "ethnic outlier" subjects whose ethnicity is different or admixed compared to most other subjects in the genotyped ...