Add to ORKGTesting for variation in BRCA1 and BRCA2 (commonly referred to as BRCA1/2), has emerged as a standard clinical practice and is helping countless women better understand and manage their heritable risk of breast and ovarian cancer. Yet the increased rate of BRCA1/2 testing has led to an increasing number of Variants of Uncertain Significance (VUS), and the rate of VUS discovery currently outpaces the rate of clinical variant interpretation. Computational prediction is a key component of the variant interpretation pipeline. In the CAGI5 ENIGMA Challenge, six prediction teams submitted predictions on 326 newly-interpreted variants from the ENIGMA Consortium. By evaluating these predictions against the new interpretations, we have gained a numb...
Background—Missense (amino-acid changing) variants found in cancer predisposition genes often create...
Introduction: The distribution of histopathological features of invasive breast tumors in BRCA1 or B...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...
Testing for variation in BRCA1 and BRCA2 (commonly referred to as BRCA1/2), has emerged as a standar...
Background: Increasing use of BRCA1/2 testing for tailoring cancer treatment and extension of testin...
As genetic testing for predisposition to human diseases has become an increasingly common practice i...
BACKGROUND Nearly 15% of BRCA1 and BRCA2 DNA tests lead to the identification of Variants of Uncerta...
As genetic testing for predisposition to human diseases has become an increasingly common practice i...
Objectives: Missense variants are very commonly detected when screening for mutations in the BRCA1 a...
Background: The use of next-generation sequencing approaches in clinical diagnostics has led to a tr...
As genetic testing for predisposition to human diseases has become an increasingly common practice i...
International audienceThe multifactorial likelihood analysis method has demonstrated utility for qua...
High-throughput sequencing is gaining popularity in clinical diagnoses, but more and more novel gene...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...
Background: Detection of variants of uncertain significance (VUSs) in BRCA1 and BRCA2 genes poses re...
Background—Missense (amino-acid changing) variants found in cancer predisposition genes often create...
Introduction: The distribution of histopathological features of invasive breast tumors in BRCA1 or B...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...
Testing for variation in BRCA1 and BRCA2 (commonly referred to as BRCA1/2), has emerged as a standar...
Background: Increasing use of BRCA1/2 testing for tailoring cancer treatment and extension of testin...
As genetic testing for predisposition to human diseases has become an increasingly common practice i...
BACKGROUND Nearly 15% of BRCA1 and BRCA2 DNA tests lead to the identification of Variants of Uncerta...
As genetic testing for predisposition to human diseases has become an increasingly common practice i...
Objectives: Missense variants are very commonly detected when screening for mutations in the BRCA1 a...
Background: The use of next-generation sequencing approaches in clinical diagnostics has led to a tr...
As genetic testing for predisposition to human diseases has become an increasingly common practice i...
International audienceThe multifactorial likelihood analysis method has demonstrated utility for qua...
High-throughput sequencing is gaining popularity in clinical diagnoses, but more and more novel gene...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...
Background: Detection of variants of uncertain significance (VUSs) in BRCA1 and BRCA2 genes poses re...
Background—Missense (amino-acid changing) variants found in cancer predisposition genes often create...
Introduction: The distribution of histopathological features of invasive breast tumors in BRCA1 or B...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...