Figure S1: Distribution of the reviewed 141 BRCA1 missense variants; Figure S2: The Shapely values for the BRCA1 XGBoost models; Figure S3: The Shapely values of the BRCA1 XGBoost model used to predict the functional assays’ results for variants of uncertain significance; Table S1: The receiver operating characteristic (ROC) curve analysis for the different in silico predictions; Table S2: Cross validation of the BRCA1 model in 5 different random training and test samples; Table S3: Pathogenicity prediction and prioritization of the 31,058 unreviewed BRCA1 variants from the BRCA Exchange database
Table S1. List of all variants (n=236) from the Classified Variant Set, including reference, functio...
Testing for variation in BRCA1 and BRCA2 (commonly referred to as BRCA1/2), has emerged as a standar...
The present limitations in the pathogenicity prediction of BRCA1 and BRCA2 (BRCA1/2) missense varian...
Figure S1: Distribution of the reviewed 141 BRCA1 missense variants; Figure S2: The Shapely values f...
Background: Existing BRCA2-specific variant pathogenicity prediction algorithms focus on the predict...
Background: Existing BRCA2-specific variant pathogenicity prediction algorithms focus on the predict...
High-throughput sequencing is gaining popularity in clinical diagnoses, but more and more novel gene...
International audienceThe multifactorial likelihood analysis method has demonstrated utility for qua...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...
<div><p>Rare exonic, non-truncating variants in known cancer susceptibility genes such as <i>BRCA1</...
Implementation of next-generation sequencing (NGS) for the genetic analysis of hereditary diseases h...
Abstract Machine learning-based pathogenicity prediction helps interpret rare missense variants of B...
Testing for variation in BRCA1 and BRCA2 (commonly referred to as BRCA1/2), has emerged as a standar...
Table S1. List of all variants (n=236) from the Classified Variant Set, including reference, functio...
Testing for variation in BRCA1 and BRCA2 (commonly referred to as BRCA1/2), has emerged as a standar...
The present limitations in the pathogenicity prediction of BRCA1 and BRCA2 (BRCA1/2) missense varian...
Figure S1: Distribution of the reviewed 141 BRCA1 missense variants; Figure S2: The Shapely values f...
Background: Existing BRCA2-specific variant pathogenicity prediction algorithms focus on the predict...
Background: Existing BRCA2-specific variant pathogenicity prediction algorithms focus on the predict...
High-throughput sequencing is gaining popularity in clinical diagnoses, but more and more novel gene...
International audienceThe multifactorial likelihood analysis method has demonstrated utility for qua...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...
<div><p>Rare exonic, non-truncating variants in known cancer susceptibility genes such as <i>BRCA1</...
Implementation of next-generation sequencing (NGS) for the genetic analysis of hereditary diseases h...
Abstract Machine learning-based pathogenicity prediction helps interpret rare missense variants of B...
Testing for variation in BRCA1 and BRCA2 (commonly referred to as BRCA1/2), has emerged as a standar...
Table S1. List of all variants (n=236) from the Classified Variant Set, including reference, functio...
Testing for variation in BRCA1 and BRCA2 (commonly referred to as BRCA1/2), has emerged as a standar...
The present limitations in the pathogenicity prediction of BRCA1 and BRCA2 (BRCA1/2) missense varian...