Annotation of VCF variants with functional impact and from databases (executable+library)
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Updated
Aug 19, 2024 - Java
Annotation of VCF variants with functional impact and from databases (executable+library)
GPF: Genotypes and Phenotypes in Families
Summarize SNV and indel information on single gene or genome level together with other relevant statistics based on .vcf files.
Call and score variants from WGS/WES of rare disease patients.
Analysis pipleine to model tumour clonal evolution from WGS data (driver annotation, quality control of copy number calls, subclonal and mutational signature deconvolution)
Variant Calling and Annotation using PacBio Hi-Fi Reads
Clinical Whole Genome and Exome Sequencing Pipeline
Pipeline for variant annotation using Variant Effect Predictor (VEP)
A modular annotation tool for genomic variants
Neighborhood-Aware Variant Impact Predictor
Human mitochondrial variants annotation using HmtVar.
Library for indexing VCF files for random access searches by rsID
Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104
The DKFZ-ODCF, formerly DKFZ/eilslabs SNV-Calling Workflow
💻 Command line interface for Genome Nexus 🧬
Add functional variant annotation to MAF file
Automated statistical and functional fine-mapping pipeline with extensive API access to datasets.
A tool for prioritising identity-by-descent (IBD) variants in Whole Genome Sequencing (WGS) data from families with rare heritable diseases.
A tool for analysis of genomic variants in human genomes.
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