High-throughput Genomics and Transcriptomics of the Human Developmental Biology Resource

The Human Developmental Biology Resource (HDBR) is an on-going collection of human fetal material ranging from 3 to 20 weeks of development, jointly funded by the MRC and Wellcome Trust and hosted by Institute of Genetic Medicine, Newcastle University and Institute of Child Health, University College London (http://www.hdbr.org/). Highly specialised human materials including tissues for cell culture, RNAs from sub-organ specific regions, and slides for spatial gene expression studies are available to the international scientific community, and linked studies contribute to a growing atlas of gene expression data throughout early fetal human development. These data are made publicly available on the Human Developmental Studies Network (HuDSeN) website (www.hudsen.org), and have underpinned over 250 projects to date in research groups across the globe.

The Human Developmental Biology Resource (HDBR) is an on-going collection of human fetal material ranging from 3 to 20 weeks of development, jointly funded by the MRC and Wellcome Trust and hosted by Institute of Genetic Medicine, Newcastle University and Institute of Child Health, University College London (http://www.hdbr.org/). Highly specialised human materials including tissues for cell culture, RNAs from sub-organ specific regions, and slides for spatial gene expression studies are available to the international scientific community, and linked studies contribute to a growing atlas of gene expression data throughout early fetal human development. These data are made publicly available on the Human Developmental Studies Network (HuDSeN) website (www.hudsen.org), and have underpinned over 250 projects to date in research groups across the globe. Here we aim to: (i) genetically characterise 450 of the human fetuses in the HDBR using high-density arrays to determine single nucleotide and copy number variants; and, (ii) generate forebrain transcriptome data by RNAseq from a subset of 200 where frozen tissue is available. These data will be made publically available on the HuDSeN website to enable the international research community to: (i) study the impact of the genetic variants on gene expression profiles in the developing brain; and/or (ii) access a range of fetal tissue harbouring a variant in a gene of interest to guide functional studies of a particular gene or pathway. This will provide a unique resource to evaluate genetic data being generated by several MRC resources, and advance our understanding of the developing human brain.