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Article

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.

Human mutation - 1 Jun 2016

Abulí Anna, Boada Montserrat, Rodríguez-Santiago Benjamín, Coroleu Buenaventura, Veiga Anna, Armengol Lluís, Barri Pedro N, Pérez-Jurado Luis A, Estivill Xavier

Abstract excerpt

Next-generation sequencing (NGS) has the capacity of carrier screening in gamete donation (GD) programs. We have developed and validated an NGS carrier-screening test (qCarrier test) that includes 200 genes associated with 368 disorders (277 autosomal recessive and 37 X-linked). Carrier screening is performed on oocyte donation candidates and the male partner of oocyte recipient. Carriers of X-linked conditions...

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Identifiers

PMID: 26990548
DOI: 10.1002/humu.22989

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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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