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Articles

Automated reanalysis application to assist in detecting novel gene-disease associations after genome sequencing

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By Birmingham Women’s, Nana E. Mensah, Viapath Genetics Laboratories, Ataf H. Sabir
| gimjournal.org
Abstract Purpose This study aimed to investigate whether a bioinformatics application can streamline genome reanalysis and yield new diagnoses for patients with rare diseases. Methods We developed TierUp to identify variants in new disease genes for unresolved rare disease cases recruited to the 100,000 Genomes Project, all of whom underwent genome sequencing.
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