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
Germline large genomic alterations on 7q in patients with multiple primary cancers
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/srep41677
Abstract: Patients with multiple primary cancers (MPCs) are suspected to have a hereditary cancer syndrome. However, only a small proportion may be explained by mutations in high-penetrance genes. We investigate two unrelated MPC patients that met… read more here.
Keywords: multiple primary; primary cancers; alterations patients; germline large ... See more keywords