ESPE Yearbook of Paediatric Endocrinology

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...