Results for "variant"
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The new corona variant has 23 mutations in all, which is unusually huge !
The new SARS-CoV-2 version, B.1.1.7, which was first seen in the third week of September in Kent and Greater London, has since spread to other locations in the UK. According to the COVID-19 Genomics UK Consortium (COG-UK Consortium) that analysed the genome data of the virus and identified the va...Tags: corona, variant, mutations, huge, SARS-CoV-2, COVID-19, Genomics, UK, London
1222 days ago
- With advances in Cancer Genomics, Mutation Annotation Format (MAF) is being widely accepted and used to store somatic variants detected. The Cancer Genome Atlas Project has sequenced over 30 different cancers with sample size of each cancer type being over 200. Resulting data consisting of somati...
Tags: maftools, maf, format, snp, variant, genome, mutation
863 days ago
What are the difference between terms mutation, variant, and strain ?
Tags: terms, mutation, variant, strain, SARS-Cov2, Covid19
805 days ago
Merfin: improved variant filtering, assembly evaluation and polishing via k-mer validation
Merfin, a k-mer based variant-filtering algorithm for improved accuracy in genotyping and genome assembly polishing. Merfin evaluates each variant based on the expected k-mer multiplicity in the reads, independently of the quality of the read alignment and variant caller’s interna...Tags: Merfin, improved, variant, filtering, assembly, evaluation, polishing, k-mer, validation
756 days ago
Minda: a tool for evaluating structural variant (SV) callers
Minda is a tool for evaluating structural variant (SV) callers that standardizes VCF records for compatibility with both germline and somatic SV callers, benchmarks against a single VCF input file, or benchmarks against an ensemble call set created from multiple VCF input files.Tags: Minda, tool, evaluating, structural, variant, SV, callers
28 days ago
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