Results for "Structure Variation"

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  • The Mills lab

    The laboratory is focused on the discovery and analysis of structural variation (SVs) from genomic sequence data. As part of the 1000 Genomes Project and other endeavors, we have helped produce initial fine-scale maps using a variety of SV discovery approaches including: (i) paired-end mapping (o...

    Tags: Bioinformatics, Gene, Epigenomics, Structure Variation, Deletion, Breakpoint, Chromosome

    461 days ago

  • PRISM

    PRISM is a software for split read (reads which span across a structrual variant -- SV ) mapping and SV calling from the mapping result. PRISM is able to detect small insertions and abitrary size deletions, inversions and tandom duplications with the direction of discordant read pairs. PRISM_CTX ...

    Tags: Bioinformatics, Comparative genomics, Genomics, Structure Variation, SV, NGS

    171 days ago

  • 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

    171 days ago