Article

Automated application of novel gene-disease associations to scale reanalysis of undiagnosed patients

2020-10-20

Abstract excerpt

A pressing challenge for genomic medicine services is to increase the diagnostic rate of molecular testing. Reanalysis of genomic data can increase the diagnostic yield of molecular testing for rare diseases by 5.9-47% and novel gene-disease associations are often cited as the catalyst for significant findings. However, clinical services lack adequate resources to conduct routine reanalysis for unresolved cases. T...

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Literature Corpus work: a5e2728e-e430-5e1b-8ad5-3c325933f75f
DOI: 10.1101/2020.10.16.20212852

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