Annotation of VCF variants with functional impact and from databases (executable+library)
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Updated
Jun 3, 2024 - Java
Annotation of VCF variants with functional impact and from databases (executable+library)
Call and score variants from WGS/WES of rare disease patients.
A modular annotation tool for genomic variants
A python parser to simplify and build the VCF (Variant Call Format).
Automated statistical and functional fine-mapping pipeline with extensive API access to datasets.
Clinical Whole Genome and Exome Sequencing Pipeline
Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104
💻 Command line interface for Genome Nexus 🧬
The DKFZ-ODCF, formerly DKFZ/eilslabs SNV-Calling Workflow
2019 Genomics Epidemiology Workshop at Academia Sinica
Add functional variant annotation to MAF file
Library for indexing VCF files for random access searches by rsID
COVID-19 Variants Repository
Variant Calling and Annotation using PacBio Hi-Fi Reads
Human mitochondrial variants annotation using HmtVar.
Pipeline for variant annotation using Variant Effect Predictor (VEP)
A tool for analysis of genomic variants in human genomes.
Neighborhood-Aware Variant Impact Predictor
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