Article
High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.
PloS one - 1 Jan 2016
Poulsen Jesper Buchhave, Lescai Francesco, Grove Jakob, Bækvad-Hansen Marie, Christiansen Michael, Hagen Christian Munch, Maller Julian, Stevens Christine, Li Shenting, Li Qibin, Sun Jihua, Wang Jun, Nordentoft Merete, Werge Thomas Mears, Mortensen Preben Bo, Børglum Anders Dupont, Daly Mark, Hougaard David Michael, Bybjerg-Grauholm Jonas, Hollegaard Mads Vilhelm
Abstract excerpt
Stored neonatal dried blood spot (DBS) samples from neonatal screening programmes are a valuable diagnostic and research resource. Combined with information from national health registries they can be used in population-based studies of genetic diseases. DNA extracted from neonatal DBSs can be amplified to obtain micrograms of an otherwise limited resource, referred to as whole-genome amplified DNA (wgaDNA). Here...
Topics
- Adult
- Dried Blood Spot Testing
- Exome
- Genome, Human
- High-Throughput Nucleotide Sequencing
- Humans
- Infant, Newborn
- Nucleic Acid Amplification Techniques
- Pilot Projects