Erping Long

• MD.PhD.
• Assistant Professor at Chinese Academy of Medical Sciences & Peking Union Medical College

Using artificial intelligence (AI) to prevent and treat diseases is an ultimate goal in computational medicine. Although AI has been developed for screening and assisted decision-making in disease prevention and management, it has not yet been validated for systematic application in the clinic. In the context of rare diseases, the main strategy has...

Multiple hypotheses have been proposed to explain the origin of senescence, which refers to the gradual deterioration of functional characteristics with ageing. Two of the leading hypotheses are mutation accumulation (MA) and antagonistic pleiotropy (AP). The MA hypothesis states that natural selection is ineffective in purging mutations causing se...

Sensory loss is associated with behavioural changes, but how behavioural dynamics change when a sensory modality is impaired remains unclear. Here, by recording under a designed standardized scenario, the behavioural phenotypes of 4,196 infants who experienced varying degrees of visual loss but retained high behavioural plasticity, we show that beh...

There is evidence in humans for genetic influences on the probability (Pboy) that a birth yields a boy instead of a girl [1, 2, 3, 4, 5, 6], suggesting a potential variation of Pboy among families. To quantify this variation, we analyze the survey data from over 300,000 UK Biobank participants primarily born between 1940 and 1970 [7]. Surprisingly,...

Reception is an essential process for patients seeking medical care and a critical component influencing the healthcare experience. However, current communication systems rely mainly on human efforts, which are both labor and knowledge intensive. A promising alternative is to leverage the capabilities of large language models (LLMs) to assist the c...

Despite lung cancer affecting all races and ethnicities, disparities are observed in incidence and mortality rates among different ethnic groups in the United States. Non-Hispanic African Americans had a high incidence rate of lung cancer at 55.8 per 100 000 people, as well as the highest death rate at 37.2 per 100 000 people from 2016 to 2020. Whi...

Even genetically identical cells in a homogeneous environment can exhibit heterogeneous mRNA abundance because of widely unavoidable random fluctuations, typically referred to as ‘gene expression noise’. Recent studies showed that noise, not just a nuisance, is indeed involved in cellular activities (e.g., immune response), evolutionary processes,...

Genome-wide association studies (GWAS) of melanoma risk have identified 68 independent signals at 54 loci. For most loci, specific functional variants and their respective target genes remain to be established. Capture-HiC is an assay that links fine-mapped risk variants to candidate target genes by comprehensively mapping cell-type specific chroma...

Large Language Models (LLMs) are poised to revolutionize healthcare. Ophthalmology-specific LLMs remain scarce and underexplored. We introduced an open-source, specialized LLM for ophthalmology, termed Language Enhanced Model for Eye (LEME). LEME was initially pre-trained on the Llama2 70B framework and further fine-tuned with a corpus of ~127,000...

Genome-wide association studies (GWAS) identified over fifty loci associated with lung cancer risk. However, underlying mechanisms and target genes are largely unknown, as most risk-associated variants might regulate gene expression in a context-specific manner. Here, we generate a barcode-shared transcriptome and chromatin accessibility map of 117...

Although smoking is a main risk factor for lung cancer, genetic factors also contribute to the risk, as shown by over 50 genomic loci identified by genome-wide association studies (GWAS). A recent cross-ancestry lung cancer GWAS identified a common germline variant, rs12203592 (C/T), in chr6p25.3 as a new signal, and quantitative trait loci (eQTL)...

Lung cancer is one of the most prevalent and deadly forms of cancer worldwide. Whilst smoking is the main determinant, genetic factors also play a crucial role as genome-wide association studies (GWAS) have identified >50 loci associated with lung cancer risk. Yet, for most of these loci, it is still unknown how they contribute to lung cancer risk....

Background & Aims Despite the substantial impact of environmental factors, individuals with a family history of liver cancer have increased risk for hepatocellular carcinoma (HCC). However, genetic factors have not been studied systematically by genome-wide approaches in large numbers of individuals from European-descent populations (EDP). Approac...

Genome-wide association studies (GWAS) identified over fifty loci associated with lung cancer risk. However, the genetic mechanisms and target genes underlying these loci are largely unknown, as most risk-associated-variants might regulate gene expression in a context-specific manner. Here, we generated a barcode-shared transcriptome and chromatin...

While genome-wide association studies (GWAS) have discovered thousands of disease-associated loci, molecular mechanisms for a considerable fraction of the loci remain to be explored. The logical next steps for post-GWAS are interpreting these genetic associations to understand disease etiology (GWAS functional studies) and translating this knowledg...

Early detection of visual impairment is crucial but is frequently missed in young children, who are capable of only limited cooperation with standard vision tests. Although certain features of visually impaired children, such as facial appearance and ocular movements, can assist ophthalmic practice, applying these features to real-world screening r...

The most recent genome-wide association study (GWAS) of cutaneous melanoma identified 54 risk-associated loci, but functional variants and their target genes for most have not been established. Here, we performed massively parallel reporter assays (MPRAs) by using malignant melanoma and normal melanocyte cells and further integrated multi-layer ann...

To identify new susceptibility loci to lung cancer among diverse populations, we performed cross-ancestry genome-wide association studies in European, East Asian and African populations and discovered five loci that have not been previously reported. We replicated 26 signals and identified 10 new lead associations from previously reported loci. Rar...

Fourteen years after the first genome-wide association study (GWAS) of lung cancer was published, approximately forty-five genomic loci have now been significantly associated with lung cancer risk. While functional characterization was performed for several of these loci, a comprehensive summary of current molecular understanding of lung cancer ris...

Purpose: To assess the performance of a deep learning (DL) algorithm for evaluating and supervising cataract extraction using phacoemulsification with intraocular lens (IOL) implantation based on cataract surgery (CS) videos. Materials and methods: DeepSurgery was trained using 186 standard CS videos to recognize 12 CS steps and was validated in...

Tissue-based functional genomics resources including molecular quantitative trait loci datasets lack diversity in ancestry and tissue types and thus are inadequate for comprehensively investigating gene regulation. Global efforts to increase the tissue diversity will help achieve more equitable medical care.

Steroid-induced glaucoma (SIG) is the most common adverse steroid-related effect on the eyes. SIG patients can suffer from trabecular meshwork (TM) dysfunction, intraocular pressure (IOP) elevation, and irreversible vision loss. Previous studies have mainly focused on the role of extracellular matrix turnover in TM dysfunction; however, whether the...

Background Hand hygiene can be a simple, inexpensive and effective method for preventing the spread of infectious diseases. However, a reliable and consistent method for monitoring adherence to the guidelines within and outside healthcare settings is challenging. The aim of this study was to provide an approach for monitoring handwashing compliance...

Alleles that cause advantageous phenotypes with positive selection contribute to adaptive evolution. Investigations of positive selection in protein-coding genes rely on the accuracy of orthology, models, the quality of assemblies, and alignment. Here, based on the latest genome assemblies and gene annotations, we present a comparative analysis on...

Using spatial technology, our study demonstrated a negative association with green space exposure for myopia based on large-scale cohort analysis. Integrating green space into school planning may help to improve vision health in schoolchildren.

Glaucoma is the leading cause of irreversible vision loss, affecting more than 70 million individuals worldwide. Circulatory disturbances of aqueous humor (AH) have long been central pathological contributors to glaucomatous lesions. Thus, targeting the AH outflow is a promising approach to treat glaucoma. However, the epigenetic mechanisms initiat...

Background: Myopia is a complex disease caused by a combination of multiple pathogenic factors. Prevalence trends and developmental patterns of myopia exhibit substantial variability that cannot be clearly assessed using limited sample sizes. This study aims to determine the myopia prevalence over the past 60 years and trace the myopia development...

Background: Lens opacity seriously affects the visual development of infants. Slit-illumination images play an irreplaceable role in lens opacity detection; however, these images exhibited varied phenotypes with severe heterogeneity and complexity, particularly among pediatric cataracts. Therefore, it is urgently needed to explore an effective com...

A challenge of chronic diseases that remains to be solved is how to liberate patients and medical resources from the burdens of long-term monitoring and periodic visits. Precise management based on artificial intelligence (AI) holds great promise; however, a clinical application that fully integrates prediction and telehealth computing has not been...

To establish the norms of binocular and monocular acuity and interocular acuity differences for southern Chinese infants and compare these norms with the results for northern Chinese infants. A prospective, comparative, and noninterventional study was conducted from January to August 2018. Teller Acuity Cards II were used to determine the binocular...

Background: Lens opacity seriously affects the visual development of infants. Slit-illumination images play an irreplaceable role in lens opacity detection; however, these images exhibited varied phenotypes with severe heterogeneity and complexity, particularly among pediatric cataracts. Therefore, it is urgently needed to explore an effective comp...

The prevalence of myopia, or nearsightedness, has skyrocketed in the past few decades, creating a public health crisis that is commonly attributed to life-style changes. Here we report an overall increase in the frequencies of myopia-associated mutant alleles over 25 years among participants of the UK Biobank. Although myopia itself appears to be s...

The development of artificial intelligence algorithms typically demands abundant high-quality data. In medicine, the datasets that are required to train the algorithms are often collected for a single task, such as image-level classification. Here, we report a workflow for the segmentation of anatomical structures and the annotation of pathological...

Background About 30% of cell lines have been cellular cross-contaminated and misidentification, which can result in invalidated experimental results and unusable therapeutic products. Cell morphology under the microscope was observed routinely, and further DNA sequencing analysis was performed periodically to verify cell line identity, but the sequ...

Background Color vision is the ability to detect, distinguish, and analyze the wavelength distributions of light independent of the total intensity. It mediates the interaction between an organism and its environment from multiple important aspects. However, the physicochemical basis of color coding has not been explored completely, and how color p...

The general public’s attitudes, demands, and expectations regarding medical AI could provide guidance for the future development of medical AI to satisfy the increasing needs of doctors and patients. The objective of this study is to investigate public perceptions, receptivity, and demands regarding the implementation of medical AI. An online quest...

We followed visual development in a rare yet large sample of patients with congenital bilateral cataract for 4 years. We divided the patients into two groups: a complete deprivation group with no response to a flashlight pointing to either of their eyes and otherwise an incomplete deprivation group. All the patients received cataract surgery at age...

Background Common diseases are not satisfactorily managed under the current health-care system because of inadequate medical resources and limited accessibility. We aimed to establish and validate a universal artificial intelligence (AI) platform for collaborative management of cataracts involving multilevel clinical scenarios, and explored an AI-b...

Purpose To establish and validate a universal artificial intelligence (AI) platform for collaborative management of cataracts involving multilevel clinical scenarios and explored an AI-based medical referral pattern to improve collaborative efficiency and resource coverage. Methods The training and validation datasets were derived from the Chinese...

Ischemia-reperfusion (I/R) is a common pathology when the blood supply to an organ was disrupted and then restored. During the reperfusion process, inflammation and tissue injury were triggered, which were mediated by immunocytes and cytokines. However, the mechanisms initiating I/R-induced inflammation and driving immunocytes activation remained l...

BACKGROUND In vitro human cell line models have been widely used for biomedical research to predict clinical response, identify novel mechanisms and drug response. However, one-fifth to one-third of cell lines have been cross-contaminated, which can seriously result in invalidated experimental results, unusable therapeutic products and waste of res...

Background CC-Cruiser is an artificial intelligence (AI) platform developed for diagnosing childhood cataracts and providing risk stratification and treatment recommendations. The high accuracy of CC-Cruiser was previously validated using specific datasets. The objective of this study was to compare the diagnostic efficacy and treatment decision-ma...

Cryptophthalmos is a rare congenital disorder characterized by ocular dysplasia with eyelid malformation. Complete cryptophthalmos is characterized by the presence of continuous skin from the forehead over the eyes and onto the cheek, along with complete fusion of the eyelids. In the present study, we characterized the clinical manifestations of th...

Purpose: We assess the prevalence of spectacle wear and the factors associated with compliance among aphakic infants with congenital cataracts who underwent lens extraction in South China. Methods: Infants aged 3 months to 3 years were enrolled from among participants in the Childhood Cataract Program of the Chinese Ministry of Health (CCPMOH)....

Background Electronic medical records provide large-scale real-world clinical data for use in developing clinical decision systems. However, sophisticated methodology and analytical skills are required to handle the large-scale datasets necessary for the optimisation of prediction accuracy. Myopia is a common cause of vision loss. Current approache...

Detailed information on cohorts. (DOCX)

The variable contributions of the trained model on the entire Zhongshan Ophthalmic Centre (ZOC) dataset. The feature importance of spherical equivalent (SE), age at examination (AAE), and annual progression rate (APR) is presented. IncMSE, increase in mean square error. (TIF)

The source code of the algorithm training and validation. (PDF)

The datasets of the Guangzhou Outdoor Activity Longitudinal Trial (GOAL) and the Refractive Error Longitudinal Study (RELS). (XLSX)

Demographic characteristics of the 2 population-based datasets. (DOCX)

Detailed information on out-of-bag validation. (DOCX)

Comparative performance of the random forest and other conventional algorithms. Based on the comparative analysis, the random forest (RF) algorithm outperforms the generalised estimating equation (GEE) and the mixed-effects model (ME) regarding the detection of high myopia. (TIF)

Detailed information on conventional algorithms. (DOCX)

Ocular images play an essential role in ophthalmology. Current research mainly focuses on computer-aided diagnosis using slit-lamp images, however few studies have been done to predict the progression of ophthalmic disease. Therefore exploring an effective approach of prediction can help to plan treatment strategies and to provide early warning for...

Temporal sequence data of the slit-lamp images. (ZIP)

Aim To investigate the characteristics of young adult cataract (YAC) patients over a 10-year period. Methods This observational study included YAC patients aged 18–49 years who were treated surgically for the first time at the Zhongshan Ophthalmic Center in China. YAC patients were analysed and compared with patients with childhood cataract (CC) i...

Purpose: To measure the aqueous humor concentrations of inflammatory factors in patients with congenital cataract and to investigate the relationship between the levels and postoperative inflammatory responses. Methods: Aqueous humor samples were prospectively collected from 65 eyes of children with congenital cataracts from January to June 2015...

Ocular images play an essential role in ophthalmology. Current research mainly focus on computer-aided diagnosis using slit-lamp images, however few studies have been done to predict the progression of ophthalmic disease. Therefore by exploring an effective approach of prediction can help to plan treatment strategies and to provide early warning fo...

Background The aim of the present study was to identify the proteomic differences among human lenses in different physiopathological states and to screen for susceptibility genes/proteins via proteogenomic characterization. Methods The total proteomes identified across the regenerative lens with secondary cataract (RLSC), congenital cataract (CC) a...

Aim: To compare visual prognoses and postoperative adverse events of congenital cataract surgery performed at different times and using different surgical approaches. Methods: In this prospective, randomized controlled trial, we recruited congenital cataract patients aged 3mo or younger before cataract surgery. Sixty-one eligible patients were r...

Background Ocular images play an essential role in ophthalmological diagnoses. Having an imbalanced dataset is an inevitable issue in automated ocular diseases diagnosis; the scarcity of positive samples always tends to result in the misdiagnosis of severe patients during the classification task. Exploring an effective computer-aided diagnostic met...

Purpose To investigate the feasibility of pediatric cataract monitoring and morphologic classification using slit lamp–adapted anterior segmental photography in a large cohort that included uncooperative children. Methods Patients registered in the Childhood Cataract Program of the Chinese Ministry of Health were prospectively selected. Eligible p...

Objectives Depression and depressive symptoms are common mental disorders that have a considerable effect on patients’ health-related quality of life and satisfaction with medical care, but the prevalence of these conditions varies substantially between published studies. The aim of this study is to conduct a systematic review and meta-analysis to...

Background To investigate the distribution of the height, weight and body mass index (BMI) of children with congenital cataracts (CC) before surgical treatment. Methods This prospective study included children with CC ≤14 years of age presenting at the Zhongshan Ophthalmic Center from Jan. 2013 to Aug. 2016. The height, weight, and BMI measurement...

Sensitive periods and experience-dependent plasticity have become core issues in visual system development. Converging evidence indicates that visual experience is an indispensable factor in establishing mature visual system circuitry during sensitive periods and the visual system exhibits substantial plasticity when facing deprivation. The mechani...

Background The majority of rare diseases are complex diseases caused by a combination of multiple morbigenous factors. However, uncovering the complex etiology and pathogenesis of rare diseases is difficult due to limited clinical resources and conventional statistical methods. This study aims to investigate the interrelationship and the effectiven...

Slit-lamp images play an essential role for diagnosis of pediatric cataracts. We present a computer vision-based framework for the automatic localization and diagnosis of slit-lamp images by identifying the lens region of interest (ROI) and employing a deep learning convolutional neural network (CNN). First, three grading degrees for slit-lamp imag...