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  • vcf2maf

    Authors
    Kandoth, Cyriac
    Gao, Jianjiong
    Wang, Qingguo
    Mattioni, Michele
    4 more author(s)...
    Description

    Description from GitHub: "To convert a VCF into a MAF, each variant must be mapped to only one of all possible gene transcripts/isoforms that it might affect. But even within a single isoform, a Missense_Mutation close enough to a Splice_Site, can be labeled as either in MAF format, but not as both. This selection of a single effect per variant, is often subjective. And that's what this project...

    Subject
    Alleles
    Genotype
    High-Throughput Nucleotide Sequencing
    Protein Isoforms
    Transcription, Genetic
    Access Rights
    Free to All
  • FACETS: Fraction and Allelic Copy number estimate from Tumor/normal Sequencing

    Authors
    Seshan, Venkatraman
    Shen, Ronglai
    Description

    Description from GitHub: "An algorithm to implement Fraction and Allelic Copy number estimate from Tumor/normal Sequencing" Contains cellular fraction and copy numbers from tumor sequencing

    Subject
    Algorithms
    Alleles
    Cell Fractionation
    DNA Copy Number Variations
    Gene Frequency
    Sequence Analysis