broadinstitute / gnomad-mitochondria
☆11Updated 5 months ago
Related projects: ⓘ
- Toolkit for calling and analyzing de novo STR mutations☆13Updated 9 months ago
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆16Updated 2 years ago
- HAT is a set of tools for calling de novo variants from whole-genome sequencing data.☆23Updated 5 months ago
- Structural variant VCF annotation, duplicate removal and comparison☆26Updated 6 months ago
- Genotyping of segregating mobile elements insertions☆19Updated 3 years ago
- Introme prioritises coding and noncoding splice-altering variants for clinical variant interpretation☆19Updated 6 months ago
- ☆15Updated this week
- A tool set to assess the quality of the per read phasing and reduce the errors.☆12Updated 4 years ago
- VCF files of SVs using long-read sequencing (LRS).☆21Updated 2 years ago
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆16Updated 4 years ago
- Location of public benchmarking; primarily final results☆18Updated 2 years ago
- ☆15Updated 4 months ago
- ☆18Updated this week
- Integrative analysis of complex structural variants☆21Updated 4 years ago
- Tools to gather evidence for structural variation via breakpoint detection.☆19Updated last month
- Scripts for analyses and figures for SNP STR Imputation manuscript☆11Updated 6 years ago
- ☆20Updated 9 months ago
- CADD-SV – a framework to score the effect of structural variants☆14Updated last week
- Reproducibility workflow for Gigante et al., 2018: Using long-read sequencing to detect imprinted DNA methylation☆22Updated 5 years ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Somatic coding and non-coding mutation enrichment analysis for tumor WGS data☆9Updated 3 years ago
- A set of tools to annotate VCF files with expression and readcount data☆25Updated 2 weeks ago
- Plot CNV data with a genome viewer in R☆15Updated 7 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 6 years ago
- Teaching modules for Human Genome Variation Lab.☆18Updated last month
- ☆11Updated last year
- Automated Detection and Qualification of Differential Methylation☆10Updated 9 months ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆23Updated 4 months ago
- Split a BAM file by haplotype support☆16Updated 6 years ago
- Tools for merging Tandem Repeat VCF files☆24Updated last week