[HTML][HTML] Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants
L Loong, C Cubuk, S Choi, S Allen, B Torr, A Garrett… - Genetics in …, 2022 - Elsevier
Purpose Conditions and thresholds applied for evidence weighting of within-codon
concordance (PM5) for pathogenicity vary widely between laboratories and expert groups.
Because of the sparseness of available clinical classifications, there is little evidence for
variation in practice. Methods We used as a truthset 7541 dichotomous functional
classifications of BRCA1 and MSH2, spanning 311 codons of BRCA1 and 918 codons of
MSH2, generated from large-scale functional assays that have been shown to correlate …
concordance (PM5) for pathogenicity vary widely between laboratories and expert groups.
Because of the sparseness of available clinical classifications, there is little evidence for
variation in practice. Methods We used as a truthset 7541 dichotomous functional
classifications of BRCA1 and MSH2, spanning 311 codons of BRCA1 and 918 codons of
MSH2, generated from large-scale functional assays that have been shown to correlate …
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