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.
☆81Updated last month
Alternatives and similar repositories for clinvar
Users that are interested in clinvar are comparing it to the libraries listed below
Sorting:
- DeepSomatic is an analysis pipeline that uses a deep neural network to call somatic variants from tumor-normal and tumor-only sequencing …☆180Updated 3 months ago
- A modular annotation tool for genomic variants☆127Updated last week
- A Python package for pharmacogenomics (PGx) research☆76Updated 6 months ago
- Plugins for the Ensembl Variant Effect Predictor (VEP)☆158Updated last week
- Reproducible bioinformatics pipelines in python. Import any Unix tool/command in python.☆84Updated 4 years ago
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆85Updated 3 months ago
- HTSeq is a Python library to facilitate processing and analysis of data from high-throughput sequencing (HTS) experiments.☆106Updated 2 months ago
- simple comparison of snakemake, nextflow and cromwell/wdl☆50Updated 5 years ago
- A small-RNA sequencing analysis pipeline☆89Updated 2 months ago
- Pangolin is a deep-learning method for predicting splice site strengths.☆78Updated last year
- Call and score variants from WGS/WES of rare disease patients.☆107Updated last week
- NGS-pipe: next-generation sequencing pipelines for precision oncology☆114Updated 6 years ago
- Hail helper functions for the gnomAD project and Translational Genomics Group☆96Updated last week
- A workflow for enhanced protein isoform detection through integration of long-read RNA-seq and mass spectrometry-based proteomics.☆48Updated 2 years ago
- ☆157Updated this week
- Config files used to define parameters specific to compute environments at different Institutions☆102Updated this week
- Workflows for converting between sequence data formats☆38Updated 3 years ago
- The Pharmacogenomic Clinical Annotation Tool☆145Updated this week
- NEAT (NExt-generation Analysis Toolkit) simulates next-gen sequencing reads and can learn simulation parameters from real data.☆60Updated this week
- A proof of concept of RNAseq pipeline☆78Updated 2 months ago
- A comprehensive cancer DNA/RNA analysis and reporting pipeline☆80Updated this week
- coding exercise using TCGA immune infiltration data☆46Updated last year
- Fast HLA type inference from whole-genome data☆136Updated 4 months ago
- A set of Shiny apps to provide interactive enrichment analysis and exploration of results.☆31Updated 2 weeks ago
- Extensible specification for representing and uniquely identifying biological sequence variation☆93Updated last month
- Issue tracker for the Biostar Handbook☆63Updated 3 years ago
- Sequana: a set of Snakemake NGS pipelines☆146Updated last month
- Microbial analysis in TCGA data☆91Updated last year
- a Medical Genetics Sequence Analysis Pipeline☆84Updated this week
- This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file…☆126Updated 5 years ago