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
Plasmid-based complementation of large deletions in Phaeodactylum tricornutum biosynthetic genes generated by Cas9 editing
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DOI: 10.1038/s41598-020-70769-6
Abstract: The model diatom Phaeodactylum tricornutum is an attractive candidate for synthetic biology applications. Development of auxotrophic strains of P. tricornutum would provide alternative selective markers to commonly used antibiotic resistance genes. Here, using CRISPR/Cas9, we… read more here.
Keywords: cas9 editing; complementation; plasmid based; phaeodactylum tricornutum ... See more keywords
Genetic profile of Brazilian patients with dystrophinopathies
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DOI: 10.1111/cge.12975
Abstract: Different types of mutations in the DMD gene underlie Duchenne muscular dystrophies (DMD) and Becker muscular dystrophies (BMD). Large deletions and duplications are the most frequent causative genetic alterations worldwide, but little is known about… read more here.
Keywords: dmd bmd; large deletions; genetic profile; profile ... See more keywords
Molecular Configuration of Human Genome Neighboring Megabase-Sized Large Deletions Induced by X-Ray Irradiation
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DOI: 10.1667/rr15229.1
Abstract: The genomic landscape neighboring large deletions including the hypoxanthine-guanine phosphoribosyl transferase (HPRT) locus on human X chromosome in 6-thioguanine-resistant mutants originating from immortalized human fibroblast cells exposed to X rays was characterized by real-time quantitative… read more here.
Keywords: large deletions; genome neighboring; molecular configuration; hprt locus ... See more keywords