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vcf2maf
- Authors
- Kandoth, CyriacGao, JianjiongWang, QingguoMattioni, Michele4 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
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AllelesGenotypeHigh-Throughput Nucleotide SequencingProtein IsoformsTranscription, Genetic
- Access Rights
- Free to All
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FACETS: Fraction and Allelic Copy number estimate from Tumor/normal Sequencing
- Authors
- Seshan, VenkatramanShen, 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
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AlgorithmsAllelesCell FractionationDNA Copy Number VariationsGene FrequencySequence Analysis