Identification of large rearrangements in cancer genomes with barcode linked reads
Sign Up to like & getrecommendations! Published in 2018 at "Nucleic Acids Research"
DOI: 10.1093/nar/gkx1193
Abstract: Abstract Large genomic rearrangements involve inversions, deletions and other structural changes that span Megabase segments of the human genome. This category of genetic aberration is the cause of many hereditary genetic disorders and contributes to… read more here.
Keywords: rearrangements cancer; identification large; cancer; cancer genomes ... See more keywords
Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genomics"
DOI: 10.1186/s12920-019-0587-3
Abstract: BackgroundHealthcare providers increasingly use information about pathogenic variants in cancer predisposition genes, including sequence variants and large rearrangements (LRs), in medical management decisions. While sequence variant detection is typically robust, LRs can be difficult to… read more here.
Keywords: detection; lrs; cancer; next generation ... See more keywords