Structural variation: the hidden genomic treasure
...s phenotypic consequences. Structural variants (SVs) such as deletions, insertions, duplications, in...ions and translocations, and unbalanced ones such as duplications and deletions (copy number variations or CN...2693 days ago
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List of Bioinformatics Software Tools for Next Generation Sequencing
...in less than 15 minutes; can annotate SNPs, MNPs, and insertions and deletions; Provides assessment of impac...iption: Combined Annotation Dependent Depletion; tool for scoring SNV deletions/insertions; “integrates...2899 days ago
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