ncbi / clinvar
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.
☆73Updated last month
Alternatives and similar repositories for clinvar:
Users that are interested in clinvar are comparing it to the libraries listed below
- coding exercise using TCGA immune infiltration data☆43Updated 11 months ago
- A structural variation pipeline for short-read sequencing☆175Updated this week
- Pangolin is a deep-learning method for predicting splice site strengths.☆66Updated 7 months ago
- A small-RNA sequencing analysis pipeline☆77Updated last week
- Annotates variants in MAF with OncoKB annotation.☆126Updated 3 months ago
- CrossMap is a python program to lift over genome coordinates from one genome version to another.☆79Updated 3 months ago
- Pipeline to find aberrant events in RNA-Seq data, useful for diagnosis of rare disorders☆138Updated this week
- A modular annotation tool for genomic variants☆116Updated last month
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆75Updated last month
- A workflow for enhanced protein isoform detection through integration of long-read RNA-seq and mass spectrometry-based proteomics.☆42Updated 2 years ago
- Ultrafast DNA methylation heterogeneity calculation from bisulfite alignments (Lee et al., PLOS Computational Biology. 2023)☆43Updated last year
- HemTools: a collection of NGS pipelines and bioinformatic analyses☆69Updated this week
- This repo has been archived, these workflows are still available in the GATK repository under the scripts directory. The workflows are al…☆76Updated 4 years ago
- ☆148Updated this week
- Quantification of transposable element expression using RNA-seq☆64Updated 11 months ago
- Finder of Somatic Fusion Genes in RNA-seq data☆143Updated last year
- HTSeq is a Python library to facilitate processing and analysis of data from high-throughput sequencing (HTS) experiments.☆95Updated 2 months ago
- Various bioinformatics tutorials☆58Updated last year
- Workflows used for WGS data processing -- replaced by https://github.com/gatk-workflows/gatk4-genome-processing-pipeline☆57Updated 4 years ago
- DNA methylation studies of mammalian species☆33Updated last month
- Workflows for converting between sequence data formats☆37Updated 3 years ago
- liftover for python, made fast with cython☆83Updated last month
- Genomic Interactive Visualization Engine☆145Updated 2 years ago
- ☆63Updated 6 months ago
- DeepSomatic is an analysis pipeline that uses a deep neural network to call somatic variants from tumor-normal and tumor-only sequencing …☆158Updated last month
- Plugins for the Ensembl Variant Effect Predictor (VEP)☆143Updated this week
- A proof of concept of RNAseq pipeline☆75Updated 2 months ago
- Julia package powering VIVA, our tool for visualization of genomic variation data. Manual:☆85Updated last year
- Microbial analysis in TCGA data☆90Updated 10 months ago
- Nanopore RNA-Seq data from the Singapore Nanopore-Expression Project☆111Updated this week