turrogroup / rsvr
Rareservoir Database Tools
☆14Updated last year
Alternatives and similar repositories for rsvr:
Users that are interested in rsvr are comparing it to the libraries listed below
- This method uses shallow Whole Genome Sequencing (sWGS) and the segmentation of a genomic profile to assess the Homologous Recombination …☆33Updated 7 months ago
- A tool to plot significant regions of GWAS☆29Updated 2 years ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆16Updated 9 months ago
- Clinical interpretation of somatic mutations in cancer☆44Updated this week
- Burden testing against public controls☆50Updated 11 months ago
- ☆23Updated 2 months ago
- Package for calculation of Homologous Recombination Deficiency☆13Updated 4 years ago
- Advanced plotting functions for CNV data generated by CNV-Seq and Control Freec☆13Updated 4 years ago
- The tutorial for performing single-/multi-trait association analysis of whole-genome/whole-exome sequencing (WGS/WES) studies using FAVOR…☆28Updated 2 months ago
- An R package for performing association analysis of whole-genome/whole-exome sequencing (WGS/WES) studies using STAARpipeline☆62Updated last week
- ☆13Updated 7 years ago
- ☆25Updated 4 years ago
- This is a pipeline for variant annotation in the diagnosis of rare genetic disorders. It relies on open source data and has instructions …☆17Updated last year
- Fork from https://bitbucket.org/mcgranahanlab/lohhla/src, modified for MSKCC needs☆30Updated last year
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆41Updated this week
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆37Updated 4 years ago
- Comprehensive genome-wide visualization of absolute copy number and copy neutral variations☆29Updated 5 years ago
- ☆33Updated 2 years ago
- Comprehensive analysis of small RNA sequencing data☆30Updated 8 months ago
- 📊Evaluating, filtering, comparing, and visualising VCF☆27Updated last year
- Convert RNA-STAR aligner "SJ.out.tab" files to "Percent spliced-in" (Psi) scores☆8Updated 9 years ago
- ☆28Updated 11 months ago
- VEP Plugin to annotate high-impact five prime UTR variants☆27Updated 5 months ago
- MutSig2CV from Lawrence et al. 2014☆31Updated 4 years ago
- Benchmarking of CNV calling tools☆18Updated 5 years ago
- An open-source and scalable solution to NGS analysis powered by the NIH's Biowulf cluster.☆4Updated last year
- CNV analysis workflow code for the manuscript☆13Updated 4 years ago
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆33Updated 7 years ago
- Main repository for Drews et al. (Nature, 2022)☆39Updated last year
- A statistical tool to detect differential alternative splicing events using single-cell RNA-seq☆22Updated last year