ncbi / clinvarLinks
ClinVar aggregates information about genomic variation and its relationship to human health. Contact us at 'clinvar@ncbi.nlm.nih.gov' with any questions or comments.
☆82Updated last week
Alternatives and similar repositories for clinvar
Users that are interested in clinvar are comparing it to the libraries listed below
Sorting:
- A modular annotation tool for genomic variants☆142Updated this week
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆90Updated 2 months ago
- ClinVar Mapping and Annotation Toolkit☆20Updated this week
- A Python package for pharmacogenomics (PGx) research☆82Updated 2 weeks ago
- A proof of concept of RNAseq pipeline☆83Updated 3 months ago
- ☆72Updated 2 months ago
- HemTools: a collection of NGS pipelines and bioinformatic analyses☆74Updated last month
- An information model for representing variant annotations.☆26Updated 2 weeks ago
- dbSNP☆142Updated last year
- Gene.iobio vue☆69Updated this week
- Call and score variants from WGS/WES of rare disease patients.☆112Updated 2 weeks ago
- HTSeq is a Python library to facilitate processing and analysis of data from high-throughput sequencing (HTS) experiments.☆107Updated 7 months ago
- Reproducible bioinformatics pipelines in python. Import any Unix tool/command in python.☆84Updated 4 years ago
- Config files used to define parameters specific to compute environments at different Institutions☆107Updated last week
- Pangolin is a deep-learning method for predicting splice site strengths.☆84Updated last year
- Fast HLA type inference from whole-genome data☆141Updated 9 months ago
- ☆46Updated 2 weeks ago
- Code for the CRISPOR article, all data and code to create figures and analysis☆47Updated 9 years ago
- simple comparison of snakemake, nextflow and cromwell/wdl☆50Updated 5 years ago
- ☆87Updated 2 months ago
- visual analysis of your VCF files☆38Updated 3 years ago
- Plugins for the Ensembl Variant Effect Predictor (VEP)☆163Updated this week
- This repository contains Jupyter Notebooks containing GATK Best Practices Workflows☆26Updated 6 years ago
- A workflow for enhanced protein isoform detection through integration of long-read RNA-seq and mass spectrometry-based proteomics.☆50Updated 3 years ago
- A Python-based EGA download client☆110Updated last year
- An ultrafast and versatile algorithm that searches for potential off-target sites of CRISPR/Cas-derived RNA-guided endonucleases.☆95Updated 3 years ago
- Python biomart API☆69Updated 2 years ago
- Module for embedding igv.js in an IPython notebook☆80Updated 11 months ago
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆85Updated 2 weeks ago
- optimization of ribosome P-site positioning in ribosome profiling data☆58Updated 10 months ago