Article

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

2021-09-29

Abstract excerpt

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 forward-compatible in regards to supporting ever-changing diagnostic rules adopted by the genetics community. Regula...

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Literature Corpus work: 9b41958e-3188-5c6d-82b1-5516fca82291
DOI: 10.1101/2021.09.26.21263358

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