Browsing Other ICR Research by author "Pemberton - Whiteley, Bethany"
Now showing items 1-4 of 4
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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; et al. (ELSEVIER SCIENCE INC, 2021-07-06)PURPOSE: Where multiple in silico tools are concordant, the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) framework affords supporting evidence toward pathogenicity or ... -
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; et al. (ELSEVIER SCIENCE INC, 2021-11-18)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 ... -
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).
Loong, L; Garrett, A; Allen, S; Choi, S; Durkie, M; et al. (ELSEVIER SCIENCE INC, 2022-06-03)PURPOSE: Variant classifications may change over time, driven by emergence of fresh or contradictory evidence or evolution in weighing or combination of evidence items. For variant classifications above the actionability ... -
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.
Allen, S; Loong, L; Garrett, A; Torr, B; Durkie, M; et al. (BMJ PUBLISHING GROUP, 2024-03-21)BACKGROUND: National and international amalgamation of genomic data offers opportunity for research and audit, including analyses enabling improved classification of variants of uncertain significance. Review of individual-level ...