Article
Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2014
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, Stock-Myer Sharyn E, Wilton Leeanda J, Jaroudi Souraya, Wells Dagan, Brown Anthony P C, Handyside Alan H
Abstract excerpt
PURPOSE: Our aim was to compare the accuracy of family- or disease-specific targeted haplotyping and direct mutation-detection strategies with the accuracy of genome-wide mapping of the parental origin of each chromosome, or karyomapping, by single-nucleotide polymorphism genotyping of the parents, a close relative of known disease status, and the embryo cell(s) used for preimplantation genetic diagnosis of...
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