POSTRE: Prediction Of STRuctural variant Effects
An online pedigree tool for research applications. Build pedigrees interactively and store as images or text files in ped format. QuickPed also computes a variety of relatedness coefficients and offers verbal descriptions of pairwise relationships.
Segregation analysis for clinical variant interpretation
🧬 Powerful CLI tool and JavaScript library for genetic variant annotation using Ensembl APIs. Supports SNVs, CNVs, VCF files, inheritance analysis, batch processing, and genome assembly liftover.
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