Results for "Variants"

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  • DISCOVAR

    DISCOVAR is a new variant caller and DISCOVAR de novo a new genome assembler, both designed for state-of-the-art data. Their inputs are chosen to optimize quality while keeping costs low. Currently it takes as input Illumina reads of length 250 or longer — produced on MiSeq or HiSeq 2500 &m...

    Tags: Bioinformatics, NGS, Assembly, DISCOVAR, Variants, BroadInstitute

    488 days ago

  • Resolving the complexity of the human genome using single-molecule sequencing

    The human genome is arguably the most complete mammalian reference assembly yet more than 160 euchromatic gaps remain and aspects of its structural variation remain poorly understood ten years after its completion. The results in this paper https://www.genomeweb.com/sequencing/team-uses-single-mo...

    Tags: variants, human reference genome, structural and sequence variation, genome assembly

    770 days ago

  • TARDIS: Toolkit for automated and rapid discovery of structural variants

    tardis Toolkit for Automated and Rapid DIscovery of Structural variants Requirements zlib (http://www.zlib.net)mrfast (https://github.com/BilkentCompGen/mrfast)htslib (included as submodule; http://htslib.org/)Fetching tardis git clone https://github.com/BilkentCompGen/tardis.git --recursive ...

    Tags: TARDIS, Toolkit, automated, rapid, discovery, structural, variants

    71 days ago