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

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,...

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Bibliographic Details
Published in:Genet Med
Main Authors: 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.
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2014
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4225458/
https://ncbi.nlm.nih.gov/pubmed/24810687
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2014.45
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