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...2692 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...2898 days ago
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Structural variation: the hidden genomic treasure
Genome re-sequencing projects have revealed substantial amounts of genetic variation between individuals extending beyond single nucleotide polymorphisms (SNPs) and short indels. Structural Variations (SVs) and Copy Number Variations (CNVs) are a major source of genomic variation. However, compar...Tags: Bioinformatics, Chromosome, Genome, NGS, Structure Variation, Deletions, Insertions, Duplications, Inversions, Translocations
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