Browsing Centre for Experimental Medicine and Rheumatology (EMR) by Author "Hanson, H"
Now showing items 1-4 of 4
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Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Garrett, A; Callaway, A; Durkie, M; Cubuk, C; Alikian, M; Burghel, GJ; Robinson, R; Izatt, L; Talukdar, S; Side, L (2020-03-13)Advances in technology have led to a massive expansion in the capacity for genomic analysis, with a commensurate fall in costs. The clinical indications for genomic testing have evolved markedly; the volume of clinical ... -
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes
Cubuk, C; Garrett, A; Choi, S; King, L; Loveday, C; Torr, B; Burghel, GJ; Durkie, M; Callaway, A; Robinson, R (2021) -
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.
Garrett, A; Durkie, M; Callaway, A; Burghel, GJ; Robinson, R; Drummond, J; Torr, B; Cubuk, C; Berry, IR; Wallace, AJ (2020-11-18)Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct estimation of cancer risk and management of patients. Consistency in the weighting assigned to individual elements of evidence ... -
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants
Loong, L; Cubuk, C; Choi, S; Allen, S; Torr, B; Garrett, A; Loveday, C; Durkie, M; Callaway, A; Burghel, GJ (2022)