Article

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts

2025-05-21

Abstract excerpt

Reanalysis of genomic data in rare disease is highly effective in increasing diagnostic yields but remains limited by manual approaches. Automation and optimization for high specificity will be necessary to ensure scalability, adoption and sustainability of iterative reanalysis. We developed a publicly available automated tool, Talos, and validated its performance using data from 1,089 individuals with rare geneti...

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Literature Corpus work: d108cec5-b6ac-5909-bd60-589b7e61b4a2
DOI: 10.1101/2025.05.19.25327921

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