Article

Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing

2020-07-24

Abstract excerpt

Around five percent of the population is affected by a rare disease, most often due to genetic variation. A genetic test is the quickest path to a diagnosis, yet most suffer through years of diagnostic odyssey before getting a test, if they receive one at all. Identifying patients that are likely to have a genetic disease and therefore need genetic testing is paramount to improving diagnosis and treatment. While t...

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Literature Corpus work: 1f75c62b-0f10-59bc-8f44-0117d805682b
DOI: 10.1101/2020.07.21.20159491

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