Variant caller GUI + genetic disease analysis
☆22Apr 29, 2020Updated 5 years ago
Alternatives and similar repositories for puzzle
Users that are interested in puzzle are comparing it to the libraries listed below
Sorting:
- VCF visualization interface☆177Updated this week
- scpca-nf is the Nextflow workflow for processing Single-cell Pediatric Cancer Atlas Portal data☆13Feb 26, 2026Updated last week
- ☆14Aug 30, 2025Updated 6 months ago
- laSV is a software package that employs local assembly to detect structural variations from whole-genome high-throughput sequencing datas…☆12Sep 26, 2016Updated 9 years ago
- Ancestry and Kinship Tools☆70Nov 16, 2022Updated 3 years ago
- Documentation for data model of ClinGen☆11Jul 5, 2018Updated 7 years ago
- genotype :: ped correspondence check, ancestry check, sex check. directly, quickly on VCF☆146Feb 17, 2026Updated 2 weeks ago
- Host depletion optimised for clinical metagenomic sequencing applications☆16Nov 18, 2024Updated last year
- Django backend to varapp☆20Feb 9, 2017Updated 9 years ago
- A python tool for parsing pedigree files☆16Aug 29, 2017Updated 8 years ago
- Please consider using/contributing to https://github.com/nf-core/sarek☆18Jan 3, 2019Updated 7 years ago
- reference free variant assembly☆34Jul 14, 2023Updated 2 years ago
- prioritize effects of variant annotations from VEP, SnpEff, et al.☆34Dec 10, 2024Updated last year
- RTG Core: Software for alignment and analysis of next-gen sequencing data.☆49May 27, 2025Updated 9 months ago
- create a gemini-compatible database from a VCF☆55Jan 5, 2021Updated 5 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Mar 10, 2018Updated 7 years ago
- Aligner for sequencing data☆21Apr 12, 2016Updated 9 years ago
- This project contains simple methods to measure sample relatedness and identify potential swaps and contamination☆10Jan 8, 2016Updated 10 years ago
- extract 454 Genome Sequencer reads from a SFF file and convert them into a FASTQ formatted output☆37Aug 24, 2015Updated 10 years ago
- Fast-SG: An alignment-free algorithm for ultrafast scaffolding graph construction from short or long reads.☆22May 29, 2018Updated 7 years ago
- VCF-Miner: A graphical user interface for sorting, filtering and querying annotated VCF Files☆37Nov 19, 2019Updated 6 years ago
- conda recipes for genomic data☆84Jul 31, 2021Updated 4 years ago
- What's The Function of these genes?☆22Mar 17, 2017Updated 8 years ago
- probability of mendelian error in trios.☆11Jan 27, 2016Updated 10 years ago
- A Nextflow pipeline to play Doom☆10Dec 1, 2025Updated 3 months ago
- Process Illumina instrument data into SAM/BAM/CRAM files.☆10Jan 5, 2026Updated 2 months ago
- Pipeline to generate variant catalogues, a list of variants and their frequencies in a population, from whole genome sequences.☆13Jun 3, 2025Updated 9 months ago
- Tissue-specific variant annotation☆10Nov 19, 2018Updated 7 years ago
- Sequence Bloom Trees with All/Some split☆11Oct 30, 2018Updated 7 years ago
- ☆11Mar 10, 2024Updated last year
- vgraph is a command line application and Python library to compare genetic variants using variant graphs. ``vgraph`` utilizes a graph re…☆43Sep 16, 2021Updated 4 years ago
- Flexible genotype query among 30,000+ samples whole-genome☆94Sep 4, 2019Updated 6 years ago
- Just another minhash implementation.☆12Feb 25, 2026Updated last week
- gvcf aggregation tool☆12Feb 7, 2018Updated 8 years ago
- HGVS variant description extractor☆11Sep 14, 2020Updated 5 years ago
- Generate mutated sequence files from a reference genome.☆11Dec 26, 2022Updated 3 years ago
- variant integration methods for the 1000 Genomes Project☆21Jan 16, 2018Updated 8 years ago
- Fast Approximate Pattern Matching using Search Schemes☆16Jan 14, 2026Updated last month
- Genomic VCF to tab-separated values☆48Mar 9, 2023Updated 2 years ago