AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease.

Despite genomic sequencing rapidly transforming from being a bench-side tool to a routine procedure in a hospital, there is a noticeable lack of genomic analysis software that supports both clinical and research workflows as well as crowdsourcing. Furthermore, most existing software packages are not...

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Detalles Bibliográficos

Publicado en:	Journal of Biomedical Informatics Vol. 133
Autores principales:	Bouzinier, M.A., Etin, D., Trifonov, S.I., Evdokimova, V.N., Ulitin, V., Shen, J., Kokorev, A., Ghazani, A.A., Chekaluk, Y., Albertyn, Z., Giersch, A., Morton, C.C., Abraamyan, F., Bendapudi, P.K., Sunyaev, S., Undiagnosed Diseases Network, Brigham Genomic Medicine, SEQuencing a Baby for an Optimal Outcome, Quantori, Krier, J.B.
Formato:	Journal Article
Publicado:	Academic Press Inc. Sep2022
Acceso en línea:	Ver este registro en EBSCOhost