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Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro

Natesan, Senthilkumar A., Bladon, Alex J., Coskun, Serdar, Qubbaj, Wafa, Prates, Renata, Munne, Santiago, Coonen, Edith, Dreesen, Joseph C.F.M., Stevens, Servi J.C., Paulussen, Aimee D.C., and others. (2014) Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genetics in Medicine, 16 (11). pp. 838-845. ISSN 1098-3600. (doi:10.1038/gim.2014.45) (The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided) (KAR id:59346)

The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided. (Contact us about this Publication)
Official URL
http://doi.org/10.1038/gim.2014.45

Abstract

Purpose:

Genomic DNA and whole-genome amplification products from embryo samples, which were previously diagnosed by targeted haplotyping, were genotyped for single-nucleotide polymorphisms genome-wide detection and retrospectively analyzed blind by karyomapping.

Results:

Genome-wide karyomapping is highly accurate and facilitates analysis of the inheritance of almost any single-gene defect, or any combination of loci, at the single-cell level, greatly expanding the range of conditions for which preimplantation genetic diagnosis can be offered clinically without the need for customized test development.

Item Type: Article
DOI/Identification number: 10.1038/gim.2014.45
Uncontrolled keywords: karyomapping; preimplantation genetic diagnosis; single-gene defect; single-nucleotide polymorphism; whole-genome amplification
Subjects: Q Science
Divisions: Divisions > Division of Natural Sciences > School of Biosciences
Depositing User: Susan Davies
Date Deposited: 01 Dec 2016 14:57 UTC
Last Modified: 29 May 2019 18:23 UTC
Resource URI: https://kar.kent.ac.uk/id/eprint/59346 (The current URI for this page, for reference purposes)
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