Multiplexing Mutation Rate Assessment: Determining Pathogenicity of Msh2 Variants in S. cerevisiae.
Sign Up to like & getrecommendations! Published in 2021 at "Genetics"
DOI: 10.1093/genetics/iyab058
Abstract: Despite the fundamental importance of mutation rate as a driving force in evolution and disease risk, common methods to assay mutation rate are time consuming and tedious. Established methods such as fluctuation tests and mutation… read more here.
Keywords: msh2 variants; pathogenicity; mutation; mutation rate ... See more keywords
RNA sequencing uncovers clinically actionable germline intronic MSH2 variants in previously unresolved Lynch syndrome families
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-249580
Abstract: Despite advances in genetic testing for Lynch syndrome, nearly one quarter of mismatch repair-deficient (MMRd) colorectal and endometrial cancers remain unexplained. When added to germline DNA testing, RNA sequencing can increase diagnostic yield, improve variant… read more here.
Keywords: rna sequencing; msh2 variants; germline; sequencing uncovers ... See more keywords