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 3 months ago
Alternatives and similar repositories for clinvar
Users that are interested in clinvar are comparing it to the libraries listed below
Sorting:
- Call and score variants from WGS/WES of rare disease patients.☆112Updated 2 weeks ago
- A modular annotation tool for genomic variants☆132Updated this week
- A Python package for pharmacogenomics (PGx) research☆79Updated 8 months ago
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆87Updated last week
- Fast HLA type inference from whole-genome data☆138Updated 6 months ago
- A small-RNA sequencing analysis pipeline☆94Updated 4 months ago
- Config files used to define parameters specific to compute environments at different Institutions☆104Updated last week
- simple comparison of snakemake, nextflow and cromwell/wdl☆50Updated 5 years ago
- A proof of concept of RNAseq pipeline☆79Updated last week
- A comprehensive cancer DNA/RNA analysis and reporting pipeline☆89Updated last week
- ClinVar Mapping and Annotation Toolkit☆20Updated 2 weeks ago
- Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.☆34Updated last week
- Pangolin is a deep-learning method for predicting splice site strengths.☆81Updated last year
- Plugins for the Ensembl Variant Effect Predictor (VEP)☆159Updated last month
- ☆70Updated this week
- ☆161Updated last week
- This repository contains Jupyter Notebooks containing GATK Best Practices Workflows☆26Updated 5 years ago
- Extensible specification for representing and uniquely identifying biological sequence variation☆94Updated 3 weeks ago
- Workflows for converting between sequence data formats☆39Updated 4 years ago
- Annotates variants in MAF with OncoKB annotation.☆135Updated 3 months ago
- Lecture notes/book in progress on computing for conservation genomics☆38Updated last year
- IGV Web App☆124Updated this week
- DeepSomatic is an analysis pipeline that uses a deep neural network to call somatic variants from tumor-normal and tumor-only sequencing …☆255Updated 2 weeks ago
- visual analysis of your VCF files☆38Updated 2 years ago
- NEAT (NExt-generation Analysis Toolkit) simulates next-gen sequencing reads and can learn simulation parameters from real data.☆63Updated this week
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆84Updated 2 months ago
- Pipeline to find aberrant events in RNA-Seq data, useful for diagnosis of rare disorders☆155Updated last week
- HTSeq is a Python library to facilitate processing and analysis of data from high-throughput sequencing (HTS) experiments.☆106Updated 4 months ago
- coding exercise using TCGA immune infiltration data☆46Updated last year
- Module for embedding igv.js in an IPython notebook☆79Updated 8 months ago