Grepore-seq: A Robust Workflow to Detect Changes After Gene Editing Through Long-Range PCR and Nanopore Sequencing

Life Sciences, Cell Biology, Biochemistry, Bioengineering, Genetics,
CRISPR/Cas9   genetic change   long-range PCR   nanopore sequencing   grepore-seq  

Grepore-seq: A Robust Workflow for Detecting Gene Editing Changes through Long-Range PCR and Nanopore Sequencing Research Background The CRISPR/Cas9 system, as an RNA-guided DNA endonuclease system, has been widely applied in genome editing. As its potential in clinical treatment continues to increase, comprehensive evaluation of gene editing resul...

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...