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Article

An algorithm to identify patients aged 0-3 with rare genetic disorders.

Orphanet journal of rare diseases - 2 May 2024

Webb Bryn D, Lau Lisa Y, Tsevdos Despina, Shewcraft Ryan A, Corrigan David, Shi Lisong, Lee Seungwoo, Tyler Jonathan, Li Shilong, Wang Zichen, Stolovitzky Gustavo, Edelmann Lisa, Chen Rong, Schadt Eric E, Li Li

Abstract excerpt

BACKGROUND: With over 7000 Mendelian disorders, identifying children with a specific rare genetic disorder diagnosis through structured electronic medical record data is challenging given incompleteness of records, inaccurate medical diagnosis coding, as well as heterogeneity in clinical symptoms and procedures for specific disorders. We sought to develop a digital phenotyping algorithm (PheIndex) using...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38698482
DOI: 10.1186/s13023-024-03188-9
PMCID: PMC11064409

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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