0xTCG / aldyView external linksLinks
Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes
☆67Jan 8, 2026Updated last month
Alternatives and similar repositories for aldy
Users that are interested in aldy are comparing it to the libraries listed below
Sorting:
- Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.☆35Oct 21, 2025Updated 3 months ago
- A tool to genotype CYP2D6 with WGS data☆55Oct 14, 2023Updated 2 years ago
- The Pharmacogenomic Clinical Annotation Tool☆158Updated this week
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆39Dec 15, 2025Updated last month
- ☆27Dec 5, 2024Updated last year
- These scripts reformat a VCF into a SQLite database, with R☆15Jul 15, 2021Updated 4 years ago
- A Python package for pharmacogenomics (PGx) research☆82Jan 4, 2026Updated last month
- a tool for predicting mitochondrial DNA deletions using soft-clipping☆23Feb 3, 2022Updated 4 years ago
- Structural Variation breakpoint discovery via adaptive learning☆16Jul 6, 2023Updated 2 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆70Jun 26, 2023Updated 2 years ago
- PGxPOP☆17Jan 25, 2023Updated 3 years ago
- Fast HLA type inference from whole-genome data☆141Apr 3, 2025Updated 10 months ago
- CNV detection tool for targeted NGS panel data☆16Feb 28, 2022Updated 3 years ago
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆85Jan 5, 2026Updated last month
- Rails application for storing and parsing clinical exome VCF files. Gene annotations can be retrieved via Biomart integration from Ensemb…☆10May 7, 2017Updated 8 years ago
- Shiny app for geno-pheno catalog☆11Nov 4, 2022Updated 3 years ago
- Human mitochondrial variants annotation using HmtVar.☆18Oct 16, 2023Updated 2 years ago
- Phase reads, assemble haplotypes and detect SVs☆19Nov 11, 2020Updated 5 years ago
- Rapid and accurate ancestry inference using SNVs.☆28Aug 15, 2025Updated 5 months ago
- A CNN - based pipeline for calling somatic SNP and INDEL variants without a matched normal☆11Sep 7, 2022Updated 3 years ago
- Genotyping Immunoglobulin Heavy Chain Variable Genes using Short Read Data☆12May 9, 2025Updated 9 months ago
- A web-browser app to visualise, interpret and prioritise genomic/transcriptomic structural variations (SVs) of multiple samples.☆13Oct 7, 2025Updated 4 months ago
- A tool for diagnosing SMA in exome, genome or targeted sequencing data☆13Apr 30, 2025Updated 9 months ago
- ☆31Aug 9, 2021Updated 4 years ago
- ☆39Jul 3, 2025Updated 7 months ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Sep 4, 2024Updated last year
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- Reference server implementation for the GA4GH HTSget API standard.☆12May 11, 2023Updated 2 years ago
- Visualisation and prioritisation of genomic variants from human exome sequencing projects☆13Apr 23, 2019Updated 6 years ago
- Simulator for structural variants in various types of next-generation sequencing data☆11Mar 21, 2017Updated 8 years ago
- Call regions of homozygosity and make tentative UPD calls☆12Jun 27, 2025Updated 7 months ago
- MEM mapper prototype☆13Nov 28, 2020Updated 5 years ago
- An insertion caller for Illumina paired-end WGS data.☆24Aug 22, 2025Updated 5 months ago
- PAnno is a Pharmacogenomics Annotation tool for clinical genomic testing.☆16Dec 28, 2022Updated 3 years ago
- Tandem repeat genotyping from long reads☆20Feb 5, 2026Updated last week
- T1K is a versatile methods to genotype highly polymorphic genes (e.g. KIR, HLA) with bulk or single-cell RNA-seq, WGS or WES data.☆98Dec 21, 2025Updated last month
- program for haplotype phasing from sequence reads and related tools☆25Nov 29, 2018Updated 7 years ago
- STRspy: a novel alignment and quantification-based state-of-the-art method, short tandem repeat (STR) detection calling tool designed spe…☆18Aug 17, 2025Updated 5 months ago
- A Mendelian approach to variant effect prediction built in keras☆20Nov 3, 2025Updated 3 months ago