Next‐generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24469
Abstract: Next‐generation sequencing (NGS) is a valuable tool, but has limitations in sequencing through repetitive runs of single nucleotides (homopolymers). Pathogenic germline variants in WRAP53 encoding telomere Cajal body protein 1 (TCAB1) are a known cause… read more here.
Keywords: chr17 606; sequencing errors; next generation; wrap53 encoding ... See more keywords
NGmerge: merging paired-end reads via novel empirically-derived models of sequencing errors
Sign Up to like & getrecommendations! Published in 2018 at "BMC Bioinformatics"
DOI: 10.1186/s12859-018-2579-2
Abstract: BackgroundAdvances in Illumina DNA sequencing technology have produced longer paired-end reads that increasingly have sequence overlaps. These reads can be merged into a single read that spans the full length of the original DNA fragment,… read more here.
Keywords: quality; merging programs; paired end; end reads ... See more keywords