Scrutinising COPD Genetics: Does Whole Genome Sequencing Offer Superior Resolution?
A massive multi-ancestry study utilises Whole Genome Sequencing to identify novel variants associated with lung function, improving upon the resolution of prior methods. The analysis highlights the gene HMCN1 as a potential driver of tissue remodelling, validated through CRISPR experiments in cell lines.
By Kim, Hu, Kim, Chun, Orchard, Qiao, Ruczinski, Saferali, Aguet, Antonacci-Fulton, Balte, Bartz, Anamika, Zhou, Duan, Brody, Cade, Daviglus, Doddapaneni, Dugan-Perez, Dutcher, Frazar, Gabriel, Gharib, Gupta, Hobbs, Kasela, Loehr, Metcalf, Muzny, Oelsner, Rasmussen-Torvik, Sitlani, Smith, Sofer, Xu, Yu, Zhang, Ziniti, Barr, Carson, Fornage, Hou, Kalhan, Kaplan, Lappalainen, London, Morrison, O’Connor, Psaty, Raffield, Redline, Rich, Rotter, Silverman, Manichaikul, Cho
