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Article

A test of automated use of electronic health records to aid in diagnosis of genetic disease.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2023

Cassini Thomas, Bastarache Lisa, Zeng Chenjie, Han Sangwoo T, Wang Janey, He Jing, Denny Joshua C

Abstract excerpt

PURPOSE: Automated use of electronic health records may aid in decreasing the diagnostic delay for rare diseases. The phenotype risk score (PheRS) is a weighted aggregate of syndromically related phenotypes that measures the similarity between an individual's conditions and features of a disease. For some diseases, there are individuals without a diagnosis of that disease who have scores similar to diagnosed...

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Identifiers

PMID: 37622442
DOI: 10.1016/j.gim.2023.100966
PMCID: PMC10840718

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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