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.
☆80Updated 7 months ago
Alternatives and similar repositories for clinvar
Users that are interested in clinvar are comparing it to the libraries listed below
Sorting:
- A structural variation pipeline for short-read sequencing☆189Updated this week
- Pangolin is a deep-learning method for predicting splice site strengths.☆75Updated last year
- A small-RNA sequencing analysis pipeline☆86Updated 3 weeks ago
- Call and score variants from WGS/WES of rare disease patients.☆101Updated this week
- A modular annotation tool for genomic variants☆124Updated last week
- Pipeline to find aberrant events in RNA-Seq data, useful for diagnosis of rare disorders☆149Updated 2 weeks ago
- A Python package for pharmacogenomics (PGx) research☆74Updated 4 months ago
- Plugins for the Ensembl Variant Effect Predictor (VEP)☆150Updated 2 weeks ago
- This repo has been archived, these workflows are still available in the GATK repository under the scripts directory. The workflows are al…☆77Updated 5 years ago
- A proof of concept of RNAseq pipeline☆77Updated 2 weeks ago
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆82Updated last month
- DeepSomatic is an analysis pipeline that uses a deep neural network to call somatic variants from tumor-normal and tumor-only sequencing …☆173Updated last month
- a Medical Genetics Sequence Analysis Pipeline☆83Updated this week
- HTSeq is a Python library to facilitate processing and analysis of data from high-throughput sequencing (HTS) experiments.☆102Updated 3 weeks ago
- Annotates variants in MAF with OncoKB annotation.☆131Updated last week
- A workflow for enhanced protein isoform detection through integration of long-read RNA-seq and mass spectrometry-based proteomics.☆46Updated 2 years ago
- optimization of ribosome P-site positioning in ribosome profiling data☆52Updated 4 months ago
- Workflows for germline short variant discovery in WGS data. PairedEndSingleSampleWf has been superseded in Broad production by https://gi…☆55Updated 5 years ago
- Helper scripts for biological data processing from Sentieon☆64Updated 8 months ago
- CrossMap is a python program to lift over genome coordinates from one genome version to another.☆85Updated 4 months ago
- Workflows for converting between sequence data formats☆38Updated 3 years ago
- simple comparison of snakemake, nextflow and cromwell/wdl☆49Updated 4 years ago
- Learning the Variant Call Format☆140Updated last year
- Microbial analysis in TCGA data☆91Updated last year
- The Pharmacogenomic Clinical Annotation Tool☆136Updated last month
- Control-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data☆162Updated 10 months ago
- Various bioinformatics tutorials☆60Updated last year
- ☆66Updated 4 months ago
- Tool suite for HGVS variant descriptions☆41Updated last week
- HiC uniform processing pipeline☆60Updated last year