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Clinical variant classification of pathogenic versus benign genetic variants remains a pivotal challenge in clinical genetics. Recently, the proposition of protein language models has improved the generic variant effect prediction (VEP)…
Numerous studies have shown that microbial metabolites, which represent the products of bacteria in the human gut, play a key role in shaping cancer risk and response to treatment. However, metabolite data typically contain a large…
The call for patient-focused drug development is loud and clear, as expressed in the 21st Century Cures Act and in recent guidelines and initiatives of regulatory agencies. Among the factors contributing to modernized drug development and…
This paper develops a new approach to post-selection inference for screening high-dimensional predictors of survival outcomes. Post-selection inference for right-censored outcome data has been investigated in the literature, but much…
Patient-reported outcomes (PROs) directly collected from cancer patients being treated with radiation therapy play a vital role in assisting clinicians in counseling patients regarding likely toxicities. Precise prediction and evaluation of…
Alcohol misuse is a key target of public health strategies aimed at reducing cardiovascular risk. The effect of excessive alcohol consumption on blood pressure may vary systematically with individuals' unobserved propensity to engage in…
[18F]-florbetaben positron emission tomography (PET) imaging is an established marker of {\ss}-Amyloid (A{\ss}) that is being increasingly used to assess A{\ss} deposition in AD. This study presents a novel, explainable machine…
Point identification of causal effects requires strong assumptions that are unreasonable in many practical settings. However, informative bounds on these effects can often be derived under plausible assumptions. Even when these bounds are…
When conducting large scale inference, such as genome-wide association studies or image analysis, nominal $p$-values are often adjusted to improve control over the family-wise error rate (FWER). When the majority of tests are null,…
While EEG features differentiate Major Depressive Disorder (MDD) from healthy controls (HC), their clinical utility as biomarkers depends on a monotonic trajectory across the disease spectrum, from the acute (AC) phase to the maintenance…
Overdose related to prescription opioids have reached an epidemic level in the US, creating an unprecedented national crisis. This has been exacerbated partly due to the lack of tools for physicians to help predict the risk of whether a…
Academic advances of AI models in high-precision domains, like healthcare, need to be made explainable in order to enhance real-world adoption. Our past studies and ongoing interactions indicate that medical experts can use AI systems with…
The global increase in mental illness requires innovative detection methods for early intervention. Social media provides a valuable platform to identify mental illness through user-generated content. This systematic review examines machine…
Numerous statistical methods have been developed to explore genomic imprinting and maternal effects, which are causes of parent-of-origin patterns in complex human diseases. However, most of them either only model one of these two…
In the first stage of a two-stage study, the researcher uses a statistical model to impute the unobserved exposures. In the second stage, imputed exposures serve as covariates in epidemiological models. Imputation error in the first stage…
Body Dysmorphic Disorder (BDD) is a highly prevalent and frequently underdiagnosed condition characterized by persistent, intrusive preoccupations with perceived defects in physical appearance. In this extended analysis, we employ multiple…
Diabetes is a prevalent chronic condition that compromises the health of millions of people worldwide. Minimally invasive methods are needed to prevent and control diabetes but most devices for measuring glucose levels are invasive and not…
Predicting whether a molecule can cross the blood-brain barrier (BBB) is a key step in early-stage neuro-pharmaceutical design, directly influencing the efficiency and success rate of drug development. Traditional methods based on…
Background: Type 2 diabetes mellitus (T2DM) is increasingly recognised as a systemic disease characterised by coordinated dysfunction across metabolic, renal, lipid, and inflammatory pathways. Existing clinical assessments often fail to…
Primary Immune thrombocytopenia (ITP) is a rare autoimmune disease characterised by immune-mediated destruction of peripheral blood platelets in patients leading to low platelet counts and bleeding. The diagnosis and effective management of…