First-line genome sequencing is here to stay, but how crucial is clinical phenotyping going to be?
BMJ Case Rep
.
2022 Mar 7;15(3):e247238.
doi: 10.1136/bcr-2021-247238.
Authors
James Taylor
1
,
Meena Balasubramanian
2
3
Affiliations
1
Medical School, University of Sheffield, Sheffield, South Yorkshire, UK.
2
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, South Yorkshire, UK m.balasubramanian@sheffield.ac.uk.
3
Department of Oncology & Metabolism, University of Sheffield, Sheffield, South Yorkshire, UK.
PMID:
35256367
PMCID:
PMC8905872
DOI:
10.1136/bcr-2021-247238
No abstract available
Keywords:
congenital disorders; genetics.
Publication types
Case Reports
MeSH terms
Base Sequence
High-Throughput Nucleotide Sequencing*
Humans
Phenotype
Grants and funding
MR/V037307/1/MRC_/Medical Research Council/United Kingdom