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Article

Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels.

PloS one - 1 Jan 2014

Lazarin Gabriel A, Hawthorne Felicia, Collins Nicholas S, Platt Elizabeth A, Evans Eric A, Haque Imran S

Abstract excerpt

Professional guidelines dictate that disease severity is a key criterion for carrier screening. Expanded carrier screening, which tests for hundreds to thousands of mutations simultaneously, requires an objective, systematic means of describing a given disease's severity to build screening panels. We hypothesized that diseases with characteristics deemed to be of highest impact would likewise be rated as most...

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Identifiers

PMID: 25494330
DOI: 10.1371/journal.pone.0114391
PMCID: PMC4262393

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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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