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Article

Clinical diagnostic Next-Generation sequencing: the case of CFTR carrier screening.

Scandinavian journal of clinical and laboratory investigation - 1 Sept 2015

Loukas Yannis L, Thodi Georgia, Molou Elina, Georgiou Vassiliki, Dotsikas Yannis, Schulpis Kleopatra H

Abstract excerpt

A 23-mutation panel for CFTR carrier screening is recommended to women of reproductive age by the American College of Obstetricians and Gynecologists. In the present study the optimized efficiency regarding the carrier rate of Next-Generation sequencing (NGS) technology is compared to the one of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25874479
DOI: 10.3109/00365513.2015.1031689

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25874479-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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