ISSN 1662-4009 (online)

Previous issue | Volume 20 | ESPEYB20

Yearbook of Paediatric Endocrinology 2023

ey0020.12-1 | Genetics | ESPEYB20

12.1. A draft human pangenome reference

Liao Wen-Wei , Asri Mobin , Ebler Jana , Doerr Daniel , Haukness Marina , Hickey Glenn , Lu Shuangjia , Lucas Julian K , Monlong Jean , Abel…. Haley J , Garrison Erik , Marschall Tobias , Hall Ira M , Li Heng , Paten Benedict

Brief summary: The Human Pangenome Reference Consortium reports a first draft of the human pangenome reference due to replace the existing reference GRCh38 (1, 2). It is an updated, high-quality, graph-based, telomere-to-telomere representation of global genomic diversity including common variants (single-nucleotide variants, structural variants and functional elements).The human reference genome is the fundamental, open-access resource of modern human g...

ey0020.12-2 | Genetics | ESPEYB20

12.2. Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland

CF Wright , P Campbell , RY Eberhardt , S Aitken , D Perrett , S Brent , P Danecek , EJ Gardner , VK Chundru , SJ Lindsay , K Andrews , J Hampstead , J Kaplanis , KE Samocha , A Middleton , J Foreman , RJ Hobson , MJ Parker , HC Martin , DR Fitz Patrick , ME Hurles , HV for the DDD Study Firth

Brief summary: In this large-scale, multicenter DNA sequencing study, probands (and families; n=13 449) with previously undiagnosed, severe, likely monogenic, complex developmental disorders from 24 centers in the UK and Irland were studied by whole exome sequencing and microarray analysis. Multimodal data analysis yielded a diagnosis in 41%, more likely with TRIO family analysis. Probands with a history of extreme prematurity, in utero exposure to antiepileptics and ...

ey0020.12-3 | Genetics | ESPEYB20

12.3. Genetic effects on the timing of parturition and links to fetal birth weight

Sole-Navais Pol , Flatley Christopher , Steinthorsdottir Valgerdur , Vaudel Marc , Juodakis Julius , Chen Jing , Laisk Triin , LaBella Abigail L , Westergaard David , Bacelis …. Jonas , Zhang Ge , Jacobsson Bo

Brief summary: This maternal genome-wide meta-analysis of gestational duration (n=195 555) found 22 associated loci and an enrichment in genes expressed during labour. The related meta-analysis of preterm delivery (18 797 cases, 260 246 controls) revealed seven associated loci and large genetic similarities with gestational duration. Maternal alleles that increase gestational duration had a negative effect on birth weight.Preterm delivery is one...

ey0020.12-4 | Genetics | ESPEYB20

12.4. Genetic insights into the social organization of Neanderthals

L Skov , S Peyregne , D Popli , LNM Iasi , T Deviese , V Slon , EI Zavala , M Hajdinjak , AP Sumer , S Grote , A Bossoms Mesa , D Lopez Herraez , B Nickel , S Nagel , J Richter , E Essel , M Gansauge , A Schmidt , P Korlevic , D Comeskey , AP Derevianko , A Kharevich , SV Markin , S Talamo , K Douka , MT Krajcarz , RG Roberts , T Higham , B Viola , AI Krivoshapkin , KA Kolobova , J Kelso , M Meyer , S Paabo , BM Peter

Brief summary: Genomic information (nuclear, Y-chromosome and mitochondrial DNA data) of 13 Neanderthals from two neighboring caves in Siberia have been analysed to infer their social community organization. The data show greater diversity of maternal lineages, which is best explained by female-biased migration between communities.This study is fascinating as it illustrates what information can be gained with genetic data and analysis beyond the medical ...

ey0020.12-5 | Genetics | ESPEYB20

12.5. Perspectives of rare disease experts on newborn genome sequencing

NB Gold , SM Adelson , N Shah , S Williams , SL Bick , ES Zoltick , JI Gold , A Strong , R Ganetzky , AE Roberts , M Walker , AM Holtz , VG Sankaran , O Delmonte , W Tan , IA Holm , JR Thiagarajah , J Kamihara , J Comander , E Place , J Wiggs , RC Green

Brief summary: This survey study addressed the question whether rare disease experts (n=238) would advise genetic neonatal screening for treatable genetic disorders. Most experts (87.9%) agreed that genetic analysis for a limited number of monogenic treatable conditions should be available to all newborns.Newborn screening has been introduced for diagnosing a few treatable congenital disorders at birth in apparently healthy newborns, in order to...