Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

doi:10.1016/j.ajhg.2018.04.004

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Article

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

American journal of human genetics - 7 Jun 2018

Punj Sumit, Akkari Yassmine, Huang Jennifer, Yang Fei, Creason Allison, Pak Christine, Potter Amiee, Dorschner Michael O, Nickerson Deborah A, Robertson Peggy D, Jarvik Gail P, Amendola Laura M, Schleit Jennifer, Simpson Dana Kostiner, Rope Alan F, Reiss Jacob, Kauffman Tia, Gilmore Marian J, Himes Patricia, Wilfond Benjamin, Goddard Katrina A B, Richards C Sue

Abstract excerpt

Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women and their partners (n = 71) who were planning a pregnancy. We report here on the clinical laboratory results from this...

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Identifiers

PMID: 29754767
DOI: 10.1016/j.ajhg.2018.04.004
PMCID: PMC5992121

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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