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

Clinical Whole Genome and Exome Sequencing Pipeline

Library for indexing VCF files for random access searches by rsID

Human mitochondrial variants annotation using HmtVar.

Add functional variant annotation to MAF file

The DKFZ-ODCF, formerly DKFZ/eilslabs SNV-Calling Workflow

Analysis pipleine to model tumour clonal evolution from WGS data (driver annotation, quality control of copy number calls, subclonal and mutational signature deconvolution)

2019 Genomics Epidemiology Workshop at Academia Sinica

Pipeline for variant annotation using Variant Effect Predictor (VEP)

Summarize SNV and indel information on single gene or genome level together with other relevant statistics based on .vcf files.

Neighborhood-Aware Variant Impact Predictor

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

COVID-19 Variants Repository