Challenges of using whole genome sequencing in population newborn screening
Rachel Horton, Caroline F. Wright, Helen V. Firth, Clare Turnbull, Robin Lachmann, Richard S. Houlston, Anneke Lucassen
Abstract
<b>Rachel Horton and colleagues</b> argue that making sense of genomic variation in newborn babies is difficult, so the UK Generation Study will analyse only a tiny proportion of the genome. Why then is it collecting entire genomes?
Topics & Concepts
GenomePopulationGenomicsData scienceVariation (astronomy)DNA sequencingComputational biologyBiologyComputer scienceGeneticsMedicineGeneEnvironmental healthPhysicsAstrophysicsGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesMetabolism and Genetic Disorders