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Article

Next-generation carrier screening.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2014

Umbarger Mark A, Kennedy Caleb J, Saunders Patrick, Breton Benjamin, Chennagiri Niru, Emhoff John, Greger Valerie, Hallam Stephanie, Maganzini David, Micale Cynthia, Nizzari Marcia M, Towne Charles F, Church George M, Porreca Gregory J

Abstract excerpt

PURPOSE: Carrier screening for recessive Mendelian disorders traditionally employs focused genotyping to interrogate limited sets of mutations most prevalent in specific ethnic groups. We sought to develop a next-generation DNA sequencing-based workflow to enable analysis of a more comprehensive...

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Identifiers

PMID: 23765052
DOI: 10.1038/gim.2013.83
PMCID: PMC3918543

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23765052-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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