A modular annotation tool for genomic variants
Call and score variants from WGS/WES of rare disease patients.
Annotation of VCF variants with functional impact and from databases (executable+library)
A python parser to simplify and build the VCF (Variant Call Format).
Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104
Human mitochondrial variants annotation using HmtVar.
Analysis pipleine to model tumour clonal evolution from WGS data (driver annotation, quality control of copy number calls, subclonal and mutational signature deconvolution)
Library for indexing VCF files for random access searches by rsID
Add functional variant annotation to MAF file
The DKFZ-ODCF, formerly DKFZ/eilslabs SNV-Calling Workflow
2019 Genomics Epidemiology Workshop at Academia Sinica
Neighborhood-Aware Variant Impact Predictor
Summarize SNV and indel information on single gene or genome level together with other relevant statistics based on .vcf files.
A prototype tool for prioritising identity-by-descent (IBD) variants in Whole Genome Sequencing (WGS) data from families with rare heritable diseases.
GPF: Genotypes and Phenotypes in Families
A tool for analysis of genomic variants in human genomes.
Variant Calling and Annotation using PacBio Hi-Fi Reads
OpenCRAVAT as a GenePattern module
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