RNA sequencing uncovers clinically actionable germline intronic MSH2 variants in previously unresolved Lynch syndrome families
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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
Single-Cell RNA Sequencing Uncovers Kidney Tumor Cells of Origin.
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DOI: 10.1158/2159-8290.cd-rw2018-141
Abstract: Wilms tumors arise from fetal cells whereas adult tumors arise from proximal convoluted tubular cells. read more here.
Keywords: single cell; uncovers kidney; cell rna; rna sequencing ... See more keywords