Curating genomic disease-gene relationships with Gene2Phenotype (G2P).

Genetically determined disorders are highly heterogenous in clinical presentation and underlying molecular mechanism. The evidence underpinning these conditions in the peer-reviewed literature requires robust critical evaluation for diagnostic use. Here, we present a structured curation process for Gene2Phenotype (G2P).

Evaluation of the usability and acceptability of the P-STEP® mobile app: feasibility study protocol.

Background: The new P-STEP® (Personalised Space Technology Exercise Platform) app is designed to bring together tailored exercise guidance and up-to-date air quality information. The app allows individuals to plan outdoor exercise walking routes while minimising their exposure to air pollution. Individuals with chronic long-term conditions, particularly respiratory and cardiovascular conditions, can use the app in order to minimise the risk of their symptoms being exacerbated by pollution, while still gaining the benefits of outdoor exercise.

Private Doctors' Perspective towards "Patient First" in TB Diagnostic Cascade, Hisar, India.

TB diagnosis has been simplified in India following advances in available diagnostic tools. This facilitates private doctors' "patient first" approach toward early diagnosis; however, costs remain high. India's NTEP established a TB diagnostic network, which is free for patients and incentivizes private doctors to participate.

Biomarker-directed targeted therapy plus durvalumab in advanced non-small-cell lung cancer: a phase 2 umbrella trial.

For patients with non-small-cell lung cancer (NSCLC) tumors without currently targetable molecular alterations, standard-of-care treatment is immunotherapy with anti-PD-(L)1 checkpoint inhibitors, alone or with platinum-doublet therapy. However, not all patients derive durable benefit and resistance to immune checkpoint blockade is common. Understanding mechanisms of resistance-which can include defects in DNA damage response and repair pathways, alterations or functional mutations in STK11/LKB1, alterations in antigen-presentation pathways, and immunosuppressive cellular subsets within the tumor microenvironment-and developing effective therapies to overcome them, remains an unmet need.