A modular annotation tool for genomic variants
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Updated
May 9, 2024 - JavaScript
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).
Automated statistical and functional fine-mapping pipeline with extensive API access to datasets.
Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104
Human mitochondrial variants annotation using HmtVar.
Clinical Whole Genome and Exome Sequencing Pipeline
Library for indexing VCF files for random access searches by rsID
Add functional variant annotation to MAF file
2019 Genomics Epidemiology Workshop at Academia Sinica
The DKFZ-ODCF, formerly DKFZ/eilslabs SNV-Calling Workflow
Neighborhood-Aware Variant Impact Predictor
Pipeline for variant annotation using Variant Effect Predictor (VEP)
A tool for prioritising identity-by-descent (IBD) variants in Whole Genome Sequencing (WGS) data from families with rare heritable diseases.
COVID-19 Variants Repository
A tool for analysis of genomic variants in human genomes.
GPF: Genotypes and Phenotypes in Families
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