Browsing Other ICR Research by author "Pronin, Lucy Wai Yee"
Now showing items 1-3 of 3
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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 ... -
The comprehensive English National Lynch Syndrome Registry: development and description of a new genomics data resource.
Huntley, C; Loong, L; Mallinson, C; Bethell, R; Rahman, T; et al. (ELSEVIER, 2024-03-01)BACKGROUND: Lynch Syndrome (LS) is a cancer predisposition syndrome caused by constitutional pathogenic variants in the mismatch repair (MMR) genes. To date, fragmentation of clinical and genomic data has restricted ...