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James Ware

@jamesware.bsky.social

Clinician Scientist. Cardiovascular genetics, genomics in healthcare, inherited cardiac conditions, open science, patient participation. He/him. profiles.imperial.ac.uk/j.ware

Posts Replies Media

James Ware @jamesware.bsky.social · 26/11/2024

Hi Shoa - I think the first paragraph of the results explains this very transparently.

To improve DCM ascertainment in large research cohorts and health record-based biobanks, we developed a phenotyping algorithm without a requirement for data on LV chamber dimensions , which are frequently not available in studies. Of the 16 studies, six included cases recruited from specialist clinical cohorts or unequivocal DCM diagnostic codes (DCMNarrow: 6,001 cases (76.2% recruited from specialist clinical cohorts) and 449,382 controls), whereas 11 ascertained cases based on an inclusive definition of LV systolic dysfunction in the absence of secondary causes, without specific requirements for ventricular dilatation (DCMBroad: 9,299 cases and 1,157,145 controls). We found complete genetic correlation between DCMNarrow and DCMBroad (rg = 1.00), highlighting the shared genetic architecture between these phenotype definitions, and all studies were therefore combined for meta-analysis (DCM GWAS).

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James Ware @jamesware.bsky.social · 22/11/2024

It turns out much needed huge international efforts on dilated cardiomyopathy are like buses: 🚌🚌 ... nature.com/articles/s41... nature.com/articles/s41... ... bsky.app/profile/conn... bsky.app/profile/sean... ... Look forward to plans to bring all this together...

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James Ware @jamesware.bsky.social · 21/11/2024

Hi. Noob skeeting/tweeting/posting here for first time. Finally transitioning to bsky for all the reasons… I lead a research group in London, UK, focused on cardiovascular genetics, and genome medicine more broadly. I look forward to connecting...

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