Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension
Emilia M. Swietlik, Daniel J. Greene, Na Zhu…·Rachel J. Buchan
Author
National Health Service
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
3 papers
Recent·Most cited
Emilia M. Swietlik, Daniel J. Greene, Na Zhu…·Rachel J. Buchan
Ernest Turro, William J. Astle, Karyn Mégy…·Rachel J. Buchan
This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.
Daniel Rico, Joost H.A. Martens, Kate Downes…·Hendrik G. Stunnenberg
This study compares the epigenomes of neutrophils and monocytes to identify regulatory elements and chromatin states, revealing differences in enhancer activity and DNA methylation.