Whole genome sequencing helps pinpoint a genetic diagnosis for patients

BMJ. 2021 Nov 3:375:n2680. doi: 10.1136/bmj.n2680.

Author

Katherine Schon¹

Affiliation

¹ University of Cambridge & Cambridge University Hospitals NHS Trust.

PMID: 34732386
DOI: 10.1136/bmj.n2680

No abstract available

MeSH terms

Diagnosis, Differential
Genetic Diseases, Inborn / diagnosis*
Genetic Diseases, Inborn / genetics*
Genetic Testing / methods*
Humans
State Medicine
United Kingdom
Whole Genome Sequencing*