Rui Hou

TL;DR: A diagnostic tool based on a deep-learning framework for the screening of patients with common treatable blinding retinal diseases, which demonstrates performance comparable to that of human experts in classifying age-related macular degeneration and diabetic macular edema.

TL;DR: This work identified an HCC-specific methylation marker panel by comparing HCC tissue and normal blood leukocytes and showed that methylation profiles of HCC tumour DNA and matched plasma ctDNA are highly correlated.

TL;DR: This study shows that MLCs can query EHRs in a manner similar to the hypothetico-deductive reasoning used by physicians and unearth associations that previous statistical methods have not found, and provides a proof of concept for implementing an AI-based system to aid physicians in tackling large amounts of data, augmenting diagnostic evaluations, and to provide clinical decision support in cases of diagnostic uncertainty or complexity.

TL;DR: In this paper, the authors identify two distinct homozygous LSS missense mutations (W581R and G588S) in two families with extensive congenital cataracts.

TL;DR: The utility of DNA methylation profiles for differentiating tumors and normal tissues for four common cancers found that they could differentiate cancerous tissue from normal tissue with >95% accuracy and can predict prognosis and survival.