Results for "Variant"

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  • COSMIC

    ...tion and annotation of structural variants can be complex.  This i...to the different resolution that variants are reported from traditiona...s which make up a structural variant. A breakpoint is defined as a...ves a detailed description of the variant and its location  (e.g....

    2771 days ago

  • Ribbon !!

    ...genomic revolution to inspect and understand variants, expression patterns, evolut...nd query sequences, along with any associated variant calls in the sample. This way...e to the other, going through not one but two variants, for the first time showing...

    2751 days ago

  • ART: Set of Simulation Tools

    ...rmat. ART can also generate alignments in the SAM alignment or UCSC BED file format. ART can be used together with genome variants simulators (e.g. VarSim) for evaluating variant calling tools or methods.

    2738 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 a...

    2701 days ago

  • BIMA V3: an aligner customized for mate pair library sequencing

    ...is an effective and economical method for detecting genomic structural variants and chromosomal abnormalitie...ed-end read contamination, chimeras, etc.), and presence of structural variant breakpoints within reads incr...

    2697 days ago

  • Harvest

    ...ckly analyzing thousands of intraspecific microbial genomes, including variant calls, recombination detectio...lysis Gingr - Interactive visualization of alignments, trees and variants HarvestTools - Archivi...

    2649 days ago

  • ConPADE: Genome Assembly Ploidy Estimation from Next-Generation Sequencing Data

    ...rding errors in sequencing. The method can be used for whole genome shotgun (WGS) sequencing data. They also show applicability of the method for variant calling and allele dosage est...

    2625 days ago

  • Strand Life Sciences announces the release of Strand NGS v3.1 at ASHG 2017

    ...NA-Seq. UMI support in Strand NGS is end-to-end, spanning alignment to variant calling in DNA-Seq, and align...FFPE samples, UMI support in DNA-Seq enables the detection of somatic variants at low concentrations. In RN...

    2384 days ago

  • PBSuite: Software for Long-Read Sequencing Data from PacBio

    ...ntral.com/1471-2105/15/180/abstractPBHoney is an implementation of two variant-identification approaches des...iscordance and soft-clipped tails of long reads to identify structural variants.

    2622 days ago

  • Pacbio Long Reads Compatible Software and Tools

    ...PacBio data? Email us. Software categories: De novo assembly Structural Variations Detection Reference-based alignment Consensus and variant calling RNA analysis Epigen...

    2606 days ago