Sequencing of human genomes with nanopore technology
Sign Up to like & getrecommendations! Published in 2019 at "Nature Communications"
DOI: 10.1038/s41467-019-09637-5
Abstract: Whole-genome sequencing (WGS) is becoming widely used in clinical medicine in diagnostic contexts and to inform treatment choice. Here we evaluate the potential of the Oxford Nanopore Technologies (ONT) MinION long-read sequencer for routine WGS… read more here.
Keywords: sequencing human; snv calling; human genomes; genomes nanopore ... See more keywords
GeDi: applying suffix arrays to increase the repertoire of detectable SNVs in tumour genomes
Sign Up to like & getrecommendations! Published in 2020 at "BMC Bioinformatics"
DOI: 10.1186/s12859-020-3367-3
Abstract: Background Current popular variant calling pipelines rely on the mapping coordinates of each input read to a reference genome in order to detect variants. Since reads deriving from variant loci that diverge in sequence substantially… read more here.
Keywords: mapping coordinates; suffix; repertoire detectable; snv calling ... See more keywords