Article

DxFit: An ensemble method for identifying EHR diagnoses consistent with a molecular finding

2026-04-28

Abstract excerpt

As population DNA sequencing becomes more common, genomic-first approaches are increasingly used to identify individuals with possible rare genetic disorders. To accurately estimate prevalence and penetrance, these studies often confirm manifestation of the disorder using electronic health records (EHRs). Multiple strategies exist to search the EHR for diagnoses of rare disorders, however, each has its limitations...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ebf52c41-1dcc-5dc2-af43-c8a980589453
DOI: 10.64898/2026.04.24.720629

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

DxFit: An ensemble method for identifying EHR diagnoses consistent with a molecular findingDOI 10.64898/2026.04.24.720629Read

Discovery of over 200 new and expanded genetic conditions using GeneMatcher.Semantic proximity Read

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and researchSemantic proximity Read

An algorithm to identify patients with rare genetic disorders and its real-world data applicationSemantic proximity Read

Phecoder: semantic retrieval for auditing and expanding ICD-based phenotypes in EHR biobanksSemantic proximity Read

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.Semantic proximity Read

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and GenomiserSemantic proximity Read

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser.Semantic proximity Read

Phenotype-Driven Molecular Genetic Test Recommendation for Diagnosing Pediatric Rare DisordersSemantic proximity Read

PanelAppRex aggregates disease gene panels and facilitates sophisticated searchSemantic proximity Read

Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.Semantic proximity Read

Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes.Semantic proximity Read

Predicting molecular events underlying rare diseases using variant annotation, aberrant gene expression events, and human phenotype ontologySemantic proximity Read