Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) CFTR allele using haplotype-resolved long-read next generation sequencing.
Sign Up to like & getrecommendations! Published in 2022 at "Human mutation"
DOI: 10.1002/humu.24352
Abstract: Current approaches to characterize the mutational profile of the cystic fibrosis transmembrane conductance regulator (CFTR) gene are based on targeted mutation analysis (TMA) or whole gene studies derived from short-read next generation sequencing (NGS). However,… read more here.
Keywords: cftr; haplotype resolved; f508del; mutation ... See more keywords
Detection of somatic structural variants from short-read next-generation sequencing data
Sign Up to like & getrecommendations! Published in 2020 at "Briefings in Bioinformatics"
DOI: 10.1093/bib/bbaa056
Abstract: Abstract Somatic structural variants (SVs), which are variants that typically impact >50 nucleotides, play a significant role in cancer development and evolution but are notoriously more difficult to detect than small variants from short-read next-generation… read more here.
Keywords: short read; detection; read next; structural variants ... See more keywords