talkowski-lab / gnomad-sv-pipeline
Code and custom scripts relevant to gnomAD-SV (Collins*, Brand*, et al., 2020)
☆36Updated 4 years ago
Alternatives and similar repositories for gnomad-sv-pipeline:
Users that are interested in gnomad-sv-pipeline are comparing it to the libraries listed below
- ☆35Updated 4 years ago
- Comprehensive benchmark of structural variant callers☆46Updated 4 years ago
- Burden testing against public controls☆50Updated last year
- R package designed to simplify structural variant analysis☆72Updated 3 years ago
- Structural variant merging tool☆49Updated 8 months ago
- Pipeline for structural variation detection in cohorts☆49Updated 3 years ago
- heuristics to merge structural variant calls in VCF format.☆36Updated 8 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated last year
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆47Updated 4 years ago
- mity: A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data☆36Updated 3 weeks ago
- Tools for processing and analyzing structural variants.☆33Updated 9 years ago
- ☆51Updated 5 years ago
- PGxPOP☆16Updated 2 years ago
- CN-Learn☆29Updated 5 years ago
- ☆39Updated last year
- CNV screening and annotation tool☆25Updated 8 years ago
- A variant caller for the GBA gene using WGS data☆21Updated 9 months ago
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆45Updated last month
- Data and information about the Polaris study☆53Updated 5 years ago
- A fast and robust pre-processing pipeline for bulk or single-cell whole-genome bisulfite sequencing (WGBS) data.☆35Updated 3 years ago
- Python scripts for matching output of Pacific Biosciences IsoSeq RNA-seq pipeline to an annotation file.☆23Updated 9 years ago
- TIDDIT - structural variant calling☆73Updated 3 weeks ago
- A tutorial on structural variant calling for short read sequencing data☆32Updated 6 months ago
- The ECCsplorer is a bioinformatics pipeline for the automated detection of extrachromosomal circular DNA (eccDNA) from paired-end read da…☆20Updated last year
- for visual evaluation of read support for structural variation☆52Updated 11 months ago
- ☆25Updated 7 years ago
- ☆22Updated 4 months ago
- A collection of tools to deal with Bisulfite-seq/NOMe-seq (SNP/Methylation calling: BisSNP; HMM segmentation: DMNTools; Visualization/Clu…☆31Updated 3 years ago
- Scripts to run copynumber variation calls on tumor and normal BAM files using Varscan2☆29Updated 7 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year