Genetic & Genomic MedicineJournal of Biomedical InformaticsPeer-reviewed
AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease
Michael Bouzinier, Dmitry Etin, S I Trifonov…·Joel B. Krier
AnFiSA is an open-source platform for analyzing sequencing data in rare genetic disease, addressing reproducibility, adaptability, and explainability in genomic analysis.