Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies.
Sign Up to like & getrecommendations! Published in 2023 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.2164
Abstract: BACKGROUND The widespread adoption of exome sequencing has greatly increased the rate of genetic diagnosis for inherited conditions. However, the detection and validation of large deletions remains challenging. While numerous bioinformatics approaches have been developed… read more here.
Keywords: short read; characterisation; targeted nanopore; read sequencing ... See more keywords
Readfish enables targeted nanopore sequencing of gigabase-sized genomes
Sign Up to like & getrecommendations! Published in 2020 at "Nature biotechnology"
DOI: 10.1038/s41587-020-00746-x
Abstract: Nanopore sequencers can be used to selectively sequence certain DNA molecules in a pool by reversing the voltage across individual nanopores to reject specific sequences, enabling enrichment and depletion to address biological questions. Previously, we… read more here.
Keywords: targeted nanopore; readfish enables; gigabase; enables targeted ... See more keywords
Targeted nanopore sequencing with Cas9-guided adaptor ligation
Sign Up to like & getrecommendations! Published in 2020 at "Nature biotechnology"
DOI: 10.1038/s41587-020-0407-5
Abstract: Despite recent improvements in sequencing methods, there remains a need for assays that provide high sequencing depth and comprehensive variant detection. Current methods 1 – 4 are limited by the loss of native modifications, short… read more here.
Keywords: targeted nanopore; guided adaptor; nanopore sequencing; cas9 guided ... See more keywords