A robust benchmark for detection of germline large deletions and insertions
Sign Up to like & getrecommendations! Published in 2020 at "Nature biotechnology"
DOI: 10.1038/s41587-020-0538-8
Abstract: New technologies and analysis methods are enabling genomic structural variants (SVs) to be detected with ever-increasing accuracy, resolution and comprehensiveness. To help translate these methods to routine research and clinical practice, we developed a sequence-resolved… read more here.
Keywords: benchmark set; germline large; deletions insertions; large deletions ... See more keywords
MAMnet: detecting and genotyping deletions and insertions based on long reads and a deep learning approach
Sign Up to like & getrecommendations! Published in 2022 at "Briefings in bioinformatics"
DOI: 10.1093/bib/bbac195
Abstract: Structural variations (SVs) play important roles in human genetic diversity; deletions and insertions are two common types of SVs that have been proven to be associated with genetic diseases. Hence, accurately detecting and genotyping SVs… read more here.
Keywords: based long; detecting genotyping; mamnet detecting; deletions insertions ... See more keywords