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Search results for variant annotations

variant-annotations x

23 search results found

Viral Ngs ⭐ 129

Viral genomics analysis pipelines

Echtvar ⭐ 124

using all the bits for echt rapid variant annotation and filtering

Open Cravat ⭐ 98

A modular annotation tool for genomic variants

Myvariant.info ⭐ 84

MyVariant.info: A BioThings API for human variant annotations

Raredisease ⭐ 64

Call and score variants from WGS/WES of rare disease patients.

Jannovar ⭐ 51

Annotation of VCF variants with functional impact and from databases (executable+library)

Vcf Simplify ⭐ 45

A python parser to simplify and build the VCF (Variant Call Format).

Generic human DNA variant annotation pipeline

A novel management, annotation, and machine learning framework for analyzing cancer mutations

Vcf2tsvpy ⭐ 27

Genomic VCF to tab-separated values

Echolocator ⭐ 20

Automated statistical and functional fine-mapping pipeline with extensive API access to datasets.

Phenomenet Vp ⭐ 17

A phenotype-based tool for variant prioritization in WES and WGS data

Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104

Human mitochondrial variants annotation using HmtVar.

CADD-SV – a framework to score the effect of structural variants

Genome Seek ⭐ 12

Clinical Whole Genome Sequencing Pipeline

Library for indexing VCF files for random access searches by rsID

Annotatemaf ⭐ 7

Add functional variant annotation to MAF file

Snvcallingworkflow ⭐ 7

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

2019genomicsepidemiologyworkshop ⭐ 6

2019 Genomics Epidemiology Workshop at Academia Sinica

Clinical machine-learning based interpreter of germline mutations.

MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their mutation of interest in the context of general population-based genetic variation and provide detailed information of pathogenic variants found across homologous domain positions.

visual analysis of your VCF files

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