Results for "variants"

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  • Scalpel

    A team from Cold Spring Harbor Laboratory has released an algorithm, called Scalpel, for finding insertions and deletions in next generation sequencing data sets. Scalpel, which is open source and available for download on SourceForge, outperformed the popular tools GATK HaplotypeCaller and ...

    Tags: Bioinformatics, Scalpel, Genetic, Variants, Discovery, Tool

    1128 days ago

  • https://github.com/chapmanb/bcbio-nextgen #NGS #SNP #Variants #RNASeq

    Tags: NGS, SNP, Variants, RNASeq

    1185 days ago

  • What are the best known workflow or tutorial for SNP calling?

    Tags: SNP, Workflows, Tutorial, Single Nucleotide Polymorphisms, SNPs, Variants

    1165 days ago

  • A statistical method for the detection of variants from next-generation resequencing of DNA pools http://bioinformatics.oxfordjournals.org/content/26/12/i318.abstract #NGS #Variants #DNApools #Statist

    Tags: NGS, Variants, DNApools, Statist

    1112 days ago

  • 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

    521 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

    802 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

    104 days ago