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Article

Systematic design and comparison of expanded carrier screening panels.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2018

Beauchamp Kyle A, Muzzey Dale, Wong Kenny K, Hogan Gregory J, Karimi Kambiz, Candille Sophie I, Mehta Nikita, Mar-Heyming Rebecca, Kaseniit K Eerik, Kang H Peter, Evans Eric A, Goldberg James D, Lazarin Gabriel A, Haque Imran S

Abstract excerpt

PurposeThe recent growth in pan-ethnic expanded carrier screening (ECS) has raised questions about how such panels might be designed and evaluated systematically. Design principles for ECS panels might improve clinical detection of at-risk couples and facilitate objective discussions of panel choice.MethodsGuided by medical-society statements, we propose a method for the design of ECS panels that aims to maximize...

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Identifiers

PMID: 28640244
DOI: 10.1038/gim.2017.69
PMCID: PMC5763154

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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