Author
University of CambridgeORCID 0000-0002-7794-3432Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Christopher J. Rhodes, Ken Batai, Marta Bleda…·Quinten Waisfisz
This study identifies common genetic variants associated with pulmonary arterial hypertension risk and survival, focusing on HLA-DPA1/DPB1 and a SOX17 enhancer locus.
Stefan Gräf, Matthias Haimel, Marta Bleda…·Nicholas W. Morrell
This study identifies novel rare genetic variants associated with heritable pulmonary arterial hypertension through whole genome sequencing of cases and controls.
James H. R. Farmery, Mike L. Smith, NIHR BioResource - Rare Diseases…·Emma L. Wakeling
Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.