ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0019.14-15 | Genetics | ESPEYB19

14.15. Whole-genome risk prediction of common diseases in human preimplantation embryos

Kumar Akash , Im Kate , Banjevic Milena , Ng Pauline C , Tunstall Tate , Garcia Geronimo , Galhardo Luisa , Sun Jiayi , Schaedel Oren N , Levy Brynn , Hongo Donna , Kijacic Dusan , Kiehl Michelle , Tran Nam D , Klatsky Peter C , Rabinowitz Matthew

Nat Med. 2022 Mar;28(3):513–516. doi: 10.1038/s41591-022-01735-0. Epub 2022 Mar 21.Brief Summary: Currently, preimplantation genetic testing (PGT) is used to avoid specific rare Mendelian disorders before in-vitro fertilization (IVF). However, evidence is limited on the potential use of a polygenic risk score (PRS) that combines thousands of genetic variants as a predictor fo...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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