Associated Papers
Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.
Scott A et al.
Genome Biology, 2022
36550560 (PubMed )
Supplement: 13059_2022_2839_MOESM1_ESM.xlsx › Variants_For_OddsPath
Rare germline variants in childhood cancer patients suspected of genetic predisposition to cancer.
Sylvester DE et al.
Genes, Chromosomes & Cancer, 2022
Disease variant prediction with deep generative models of evolutionary data.
Frazer J et al.
Nature, 2021
Multiplexing mutation rate assessment: determining pathogenicity of Msh2 variants in Saccharomyces cerevisiae.
Ollodart AR et al.
Genetics, 2021
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Jia X et al.
American Journal of Human Genetics, 2021
33357406 (PubMed )
Supplement: mmc2.xlsx › TableS4_ValidationSet
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.
Chubb D et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015
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