The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic
architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of …

Age is the dominant risk factor for most chronic human diseases, but the mechanisms
through which ageing confers this risk are largely unknown 1 . The age-related acquisition of …

Cartilage and endochondral bone development require SOX9 activity to regulate
chondrogenesis, chondrocyte proliferation, and transition to a non-mitotic hypertrophic state. The …

Coronavirus disease 2019 (COVID-19) is caused by SARS-CoV-2, an emerging virus that
utilizes host proteins ACE2 and TMPRSS2 as entry factors. Understanding the factors affecting …

Comprehensive whole-genome structural variation detection is challenging with current
approaches. With diploid cells as DNA source and the presence of numerous repetitive elements…

… Correspondence and requests for reprints should be addressed to Angel CY Mak, M.Phil.,
Ph.D., Department of Medicine, University of California San Francisco, 1550 4th Street, San …

Coronavirus disease 2019 (COVID-19) outcomes vary from asymptomatic infection to death.
This disparity may reflect different airway levels of the SARS-CoV-2 receptor, ACE2, and the …

Importance The identification of a patient with a rare form of severe dysbetalipoproteinemia
allowed the study of the consequences of total absence of apolipoprotein E (apoE). …

To identify genetic determinants of airway dysfunction, we performed a transcriptome-wide
association study for asthma by combining RNA-seq data from the nasal airway epithelium of …

Genetic studies on telomere length are important for understanding age-related diseases.
Prior GWASs for leukocyte TL have been limited to European and Asian populations. Here, we …