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)
Scalable SQLite database for fast querying of gnomAD variant annotations (allele frequency, depth, population metrics). Supports gnomAD v2-v4, WGS and WES.
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.
A fast, memory-efficient variant effect predictor written in Rust: a from-scratch reimplementation of the Ensembl Variant Effect Predictor (VEP) that takes the same inputs and flags, emits VEP's consequence vocabulary in VEP's output formats, and annotates population-scale callsets two orders of magnitude faster than the Perl implementation.
An online tool for annotating, filtering and diagnosing patients (Exome and Genome) with Mendelian Disorders.
Clinical Whole Genome and Exome Sequencing Pipeline
This is a Genome Annotation Framework developed with the goal of annotating VCF files (Exomes or Genomes) from patients with Mendelian Disorders.
Analysis pipeline to model tumour clonal evolution from WGS data (driver annotation, quality control of copy number calls, subclonal and mutational signature deconvolution)
Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104
Human mitochondrial variants annotation using HmtVar.
Library for indexing VCF files for random access searches by rsID
🧬 BioMCP — bioinformatics MCP server: 83 tools · 43 databases · PubMed/NCBI/BLAST/PDB/UniProt/enrichment · `pip install biomcp-server` · 生信 MCP 服务器
A newly designed version of Bamsnap with Long Read Support (LRS) which inspired by bamsnap (https://github.com/parklab/bamsnap)
Add functional variant annotation to MAF file
The DKFZ-ODCF, formerly DKFZ/eilslabs SNV-Calling Workflow
Neighborhood-Aware Variant Impact Predictor
Pipeline for variant annotation using Variant Effect Predictor (VEP)
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