AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease
Michael Bouzinier, Dmitry Etin, S I Trifonov, Viktoria N. Evdokimova, V. Ulitin, Jun Shen, Anatoly M. Kokorev, Arezou A. Ghazani, Yvonne I. Chekaluk, Zayed Albertyn, Anne B. Skvorak Giersch, Cynthia Casson Morton, Feruza Abraamyan, Pavan K. Bendapudi, Shamil R. Sunyaev, , 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.
Journal of Biomedical Informatics · Aug 23, 2022Peer-reviewedGenetic & Genomic Medicine