Challenges of using whole genome sequencing in population newborn screening
BMJ
.
2024 Mar 5:384:e077060.
doi: 10.1136/bmj-2023-077060.
Authors
Rachel Horton
1
,
Caroline F Wright
2
,
Helen V Firth
3
,
Clare Turnbull
4
,
Robin Lachmann
5
,
Richard S Houlston
4
,
Anneke Lucassen
1
Affiliations
1
Centre for Human Genetics, University of Oxford, Oxford, UK.
2
Department of Clinical and Biomedical Sciences (Medical School), University of Exeter, Exeter, UK.
3
Cambridge University Hospitals, Cambridge, UK.
4
Institute of Cancer Research, London, UK.
5
University College London Hospitals NHS Trust National Hospital for Neurology and Neurosurgery, London, UK.
PMID:
38443063
DOI:
10.1136/bmj-2023-077060
No abstract available
MeSH terms
Humans
Infant, Newborn
Neonatal Screening*
Whole Genome Sequencing