ISSN 1662-4009 (online)

Previous issue | Volume 19 | ESPEYB19 | Next issue

Yearbook of Paediatric Endocrinology 2022

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...

ey0019.14-16 | Genetics | ESPEYB19

14.16. The mutational landscape of human somatic and germline cells

Moore Luiza , Cagan Alex , Coorens Tim H H , Neville Matthew D C , Sanghvi Rashesh , Sanders Mathijs A , Oliver Thomas R W , Leongamornlert Daniel , Ellis Peter , Noorani Ayesha , Mitchell Thomas J , Butler Timothy M , Hooks Yvette , Warren Anne Y , Jorgensen Mette , Dawson Kevin J , Menzies Andrew , O'Neill Laura , Latimer Calli , Teng Mabel , van Boxtel Ruben , Iacobuzio-Donahue Christine A , Martincorena Inigo , Heer Rakesh , Campbell Peter J , Fitzgerald Rebecca C , Stratton Michael R , Rahbari Raheleh

Nature. 2021 Sep;597(7876):381–386. doi: 10.1038/s41586-021-03822-7.Brief Summary: This study investigated the mutational background of somatic cells and rates of mutation in 29 distinct anatomical structures and compared these with the male germline from the same donor. The rate of mutation was lowest in spermatogonia.Characterization of mutations that occur in...