Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Genetic association analysis We identified the recessive form of RNU2-2 syndrome through a joint statistical analysis of the…
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity
Protein coding variation and population structure in 44,028 South Asian exome sequences We identified a total of 4,723,926…
AI-based chest X-ray prioritization in the lung cancer diagnostic pathway: the LungIMPACT randomized controlled trial
This large, multisite randomized study has shown that AI prioritization of CXRs did not improve the speed of…
A clinical environment simulator for dynamic AI evaluation
Goh, E. et al. Large language model influence on diagnostic reasoning: a randomized clinical trial. JAMA Netw. Open…
Piezo1-dependent activation of stromal cells ignites muscle inflammation in exercise and injury and is associated with inflammaging
Furman, D. et al. Chronic inflammation in the etiology of disease across the life span. Nat. Med. 25,…
Confounding factors and biases abound when predicting molecular biomarkers from histological images
Data and study design We analysed the limitations of existing ML approaches for predicting molecular biomarkers (for example,…
Vegetarian diets and cancer risk: pooled analysis of 1.8 million women and men in nine prospective studies on three continents
Study population The study design and data harmonisation process have been described in detail elsewhere [17]. Briefly, prospective…
Three-dimensional genome reorganization foreshadows zygotic genome activation in Drosophila
Drosophila stock maintenance PCNA::EGFP flies used for interphase-staged Pico-C were generously provided by S. A. Blythe and E.…
PRIMARY-AI: outcomes-based standards to safeguard primary care in the AI era
School of Clinical Medicine, Beijing Tsinghua Changgung Hospital, Tsinghua Medicine, Tsinghua University, Beijing, China Dian Zeng, Zehua Jiang, Yiming Qin & Tien…
Reliability of LLMs as medical assistants for the general public: a randomized preregistered study
The study employed a between-subjects design with three treatment groups and a control. Before the treatment phase, participants…
Mutational scanning reveals oncogenic CTNNB1 mutations have diverse effects on signaling
CTNNB1 hotspot mutational patterns are tissue-specific We analyzed 9,248 tumors with CTNNB1 mutations in the COSMIC database (Fig.…
Fecal microbiota transplantation plus immunotherapy in non-small cell lung cancer and melanoma: the phase 2 FMT-LUMINate trial
Study participants and clinical trial design The FMT-LUMINate trial (NCT04951583) is a multicenter, open-label, phase 2 trial that…