ESPE Yearbook of Paediatric Endocrinology

N Engl J Med. 2021;385(20):1868-80. doi: 10.1056/NEJMoa2035790. PubMed ID: 34758253Brief summary: This paper describes the pilot data for the UK 100 000 Genomes Project, including Whole Genome Sequencing (WGS) data on 4660 participants from 2183 families, and covering 161 disorders. They made a genetic diagnosis in 25% of probands; diagnoses were more likely for probands who presented with inte...