Title: Allelix - Open-Source Genomic Annotation Engine
Open Graph Title: Allelix - Open-Source Genomic Annotation Engine
Description: Allelix is an open-source Python tool that transforms raw genotyping data into fully annotated, single-file HTML reports. ClinVar, ClinGPx, SNPedia, GWAS Catalog, AlphaMissense, CADD, and gnomAD in one pipeline.
Open Graph Description: Transform raw genotyping data into fully annotated HTML reports. Seven databases. One pipeline. Zero cloud dependency.
Opengraph URL: https://allelix.io
Domain: allelix.io
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| og:type | website |
Links:
| allelix | https://allelix.io/ |
| Sources | https://allelix.io#sources |
| Features | https://allelix.io#features |
| Report | https://allelix.io#report |
| Analyze | https://analyze.allelix.io |
| GitHub | https://github.com/allelix/allelix |
| Sources | https://allelix.io#sources |
| Features | https://allelix.io#features |
| Report | https://allelix.io#report |
| Analyze | https://analyze.allelix.io |
| GitHub | https://github.com/allelix/allelix |
| View on GitHub | https://github.com/allelix/allelix |
| See sample report → | https://allelix.io/sample/ |
| C ClinVar NCBI's archive of variant-condition relationships with clinical review status. Clinical significance | https://www.ncbi.nlm.nih.gov/clinvar/ |
| P ClinPGx Pharmacogenomic associations linking genotypes to drug response phenotypes. Drug interactions | https://www.clinpgx.org |
| S SNPedia Community-curated wiki of SNP effects, magnitudes, and genotype interpretations. Magnitude scoring | https://www.snpedia.com/ |
| G GWAS Catalog EBI/NHGRI catalog of published genome-wide association studies. Trait associations | https://www.ebi.ac.uk/gwas/ |
| A AlphaMissense DeepMind's pathogenicity predictions for all possible single amino acid substitutions. ML pathogenicity | https://github.com/google-deepmind/alphamissense |
| D CADD Combined Annotation Dependent Depletion scores for variant deleteriousness. Phred-scaled scores | https://cadd.gs.washington.edu/ |
| n gnomAD Population allele frequencies from 807,162 individuals across diverse ancestries. Population frequency | https://gnomad.broadinstitute.org/ |
| v2.0.0 Now supporting VCF, gVCF & whole-genome sequencing (WGS) | https://github.com/allelix/allelix |
| Get started | https://github.com/allelix/allelix |
| Documentation | https://github.com/allelix/allelix#readme |
| GitHub | https://github.com/allelix/allelix |
| Docs | https://github.com/allelix/allelix#readme |
| Issues | https://github.com/allelix/allelix/issues |
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