NCBI-Hackathons / TheHumanPangenomeLinks
A Strategy for Building and Using a Human Reference Pangenome
☆71Updated 5 years ago
Alternatives and similar repositories for TheHumanPangenome
Users that are interested in TheHumanPangenome are comparing it to the libraries listed below
Sorting:
- ☆49Updated last year
- for visual evaluation of read support for structural variation☆55Updated last year
- TIDDIT - structural variant calling☆78Updated last month
- A tutorial on structural variant calling for short read sequencing data☆38Updated last year
- vcfdist: Accurately benchmarking phased variant calls☆85Updated 4 months ago
- Structural variant caller☆55Updated 4 years ago
- Specifications for PacBio® native file formats☆31Updated last year
- a hidden Markov model to infer simple repeats from genome sequences☆36Updated 4 years ago
- A tool for genotyping Variable Number Tandem Repeats (VNTR) from sequence data☆47Updated last year
- Long read alignment analysis. Generate a reports on sequence alignments for mappability vs read sizes, error patterns, annotations and r…☆48Updated 7 years ago
- ☆51Updated 6 years ago
- Structural variant merging tool☆57Updated last year
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆37Updated last month
- Data from the Human PanGenomics Project☆61Updated 4 years ago
- A snakemake pipeline for SV analysis from nanopore genome sequencing☆52Updated 5 years ago
- MetaSV: An accurate and integrative structural-variant caller for next generation sequencing☆59Updated 8 years ago
- MethPhaser: methylation-based haplotype phasing of human genomes☆52Updated 10 months ago
- ☆35Updated 4 years ago
- A method for variant graph genotyping based on exact alignment of k-mers☆87Updated 6 years ago
- Methylation Phasing for Nanopore Sequencing☆49Updated 2 years ago
- ☆83Updated 10 months ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆36Updated 2 years ago
- UCSC Nanopore☆44Updated 6 years ago
- Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies☆18Updated 2 years ago
- Structural Variant Index☆75Updated last year
- Alignment-free genotyper for SNPs and short indels, implemented in Python.☆53Updated 10 months ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆39Updated last month
- FALCON-Phase integrates PacBio long-read assemblies with Phase Genomics Hi-C data to create phased, diploid, chromosome-scale scaffolds☆74Updated 5 years ago
- DEPRECATED - Workflow for the comprehensive detection and prioritization of variants in human genomes with PacBio HiFi reads☆39Updated 2 years ago
- ☆61Updated 4 years ago