A 39 kb Structural Variant Causing Lynch Syndrome Detected by Optical Genome Mapping and Nanopore Sequencing

Medicine, Oncology, Life Sciences, Genetics,
Lynch syndrome   optical genome mapping   nanopore sequencing   structural variant   hereditary cancer   mismatch repair genes   founder event  

Detection of a 39 kb structural variant causing Lynch syndrome using optical genome mapping and nanopore sequencing Research Background Lynch syndrome (LS) is a hereditary cancer syndrome primarily caused by pathogenic germline variants in four genes of the MMR (mismatch repair) gene family: MLH1, MSH2, MSH6, and PMS2. This syndrome is characterize...

Genome-Wide Repeat Landscapes in Cancer and Cell-Free DNA

Genome-Wide Repeat Landscapes in Cancer and Cell-Free DNA

Medicine, Basic Medical Sciences, Oncology, Life Sciences, Genetics,
cancer   genome-wide repeats   cell-free DNA   liquid biopsy   early detection   structural variant   epigenetics  

A Panoramic View of Whole Genome Repetitive Sequences in Cancer and Circulating Free DNA Research Background and Significance Throughout the development of cancer and other diseases, genetic changes in repetitive sequences within the genome are a significant characteristic. However, standard sequencing methods struggle to effectively characterize t...