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

Senthilkumar A. Natesan | Zendy; Alex J. Bladon | Zendy; Serdar Coşkun | Zendy; Wafa Qubbaj | Zendy; R. Prates | Zendy; S. Munné | Zendy; Edith Coonen | Zendy; J. Dreesen | Zendy; Servi J.C. Stevens | Zendy; Aimée Paulussen | Zendy; Sharyn StockMyer | Zendy; L. Wilton | Zendy; Souraya Jaroudi | Zendy; Dagan Wells | Zendy; Anthony P. Brown | Zendy; Alan H. Handyside | Zendy

Open Access

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

Author(s) -

Senthilkumar A. Natesan,

Alex J. Bladon,

Serdar Coşkun,

Wafa Qubbaj,

R. Prates,

S. Munné,

Edith Coonen,

J. Dreesen,

Servi J.C. Stevens,

Aimée Paulussen,

Sharyn StockMyer,

L. Wilton,

Souraya Jaroudi,

Dagan Wells,

Anthony P. Brown,

Alan H. Handyside

Publication year - 2014

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2014.45

Subject(s) - genetics , biology , genotyping , haplotype , single nucleotide polymorphism , genome , preimplantation genetic diagnosis , human genome , reference genome , gene , embryo , genotype

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 single-gene defects in a single cell or small numbers of cells biopsied from human embryos following in vitro fertilization.

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