output
19982025
most citedSecond-generation PLINK: rising to the challenge of larger and richer datasets

14.3k citations

127 papers

q-bio.GN2025

Advancing Risk Gene Discovery Across the Allele Frequency Spectrum

Madison Caballero, Behrang Mahjani

The discovery of genetic risk factors has transformed human genetics, yet the pace of new gene identification has slowed despite the exponential expansion of sequencing and biobank…

physics.flu-dyn2025

Stresses and fluid flow in lamina cribrosa through anisotropic poroelasticty

Riccardo Cavuoto, Sofia Damian, Luca Deseri +5

To investigate the mechanical correlations between intraocular pressure (IOP) variations and glaucoma, this study presents a linear transversely isotropic poroelastic model of the…

physics.med-ph2025★ 2 cited

Millennium Pathways for Tractography: 40 grand challenges to shape the future of tractography

Maxime Descoteaux, Kurt G. Schilling, Dogu Baran Aydogan +44

In the spirit of the historic Millennium Prize Problems that heralded a new era for mathematics, the newly formed International Society for Tractography (IST) has launched the Mill…

math.NT2025

Generalization of Ramanujan's formula for sums of half-integer powers of consecutive integers via formal Bernoulli series

Max A. Alekseyev, Rafael Gonzalez, Keryn Loor +2

Faulhaber's formula expresses the sum of the first positive integers, each raised to an integer power , as a polynomial in of degree . Ramanujan expressed thi…

stat.ME2025

A Network-Guided Penalized Regression with Application to Proteomics Data

Seungjun Ahn, Eun Jeong Oh

Network theory has proven invaluable in unraveling complex protein interactions. Previous studies have employed statistical methods rooted in network theory, including the Gaussian…

eess.IV2025★ 3 cited

Vision Language Models versus Machine Learning Models Performance on Polyp Detection and Classification in Colonoscopy Images

Mohammad Amin Khalafi, Seyed Amir Ahmad Safavi-Naini, Ameneh Salehi +13

Introduction: This study provides a comprehensive performance assessment of vision-language models (VLMs) against established convolutional neural networks (CNNs) and classic machi…

cs.CL2025★ 2 cited

Self-Reported Confidence of Large Language Models in Gastroenterology: Analysis of Commercial, Open-Source, and Quantized Models

Nariman Naderi, Seyed Amir Ahmad Safavi-Naini, Thomas Savage +4

This study evaluated self-reported response certainty across several large language models (GPT, Claude, Llama, Phi, Mistral, Gemini, Gemma, and Qwen) using 300 gastroenterology bo…

stat.ME2025

Leveraging Two-Phase Data for Improved Prediction of Survival Outcomes with Application to Nasopharyngeal Cancer

Eun Jeong Oh, Seungjun Ahn, Tristan Tham +1

Accurate survival predicting models are essential for improving targeted cancer therapies and clinical care among cancer patients. In this article, we investigate and develop a met…

stat.ME2025

A Multi-Omics Framework for Survival Mediation Analysis of High-Dimensional Proteogenomic Data

Seungjun Ahn, Weijia Fu, Maaike van Gerwen +2

Survival analysis plays a crucial role in understanding time-to-event (survival) outcomes such as disease progression. Despite recent advancements in causal mediation frameworks fo…

physics.med-ph2024★ 3 cited

A Method for Imaging the Ischemic Penumbra with MRI using IVIM

Mira M. Liu, Niloufar Saadat, Steven P. Roth +5

This work examines the hypothesis that intravoxel incoherent motion MRI (IVIM) can quantify local cerebral blood flow (qCBF), infarct volume, and define the ischemic penumbra for d…

physics.med-ph2024

Impact of normal lung volume choices on radiation pneumonitis risk prediction in locally advanced NSCLC radiotherapy

Alyssa Gadsby, Tian Liu, Robert Samstein +4

This study is to evaluate the impact of lung volume choices on predicting radiation pneumonitis (RP) risk in patients with locally advanced NSCLC undergoing radiotherapy. Dosimetri…

cs.CY2024★ 10 cited

Environment Scan of Generative AI Infrastructure for Clinical and Translational Science

Betina Idnay, Zihan Xu, William G. Adams +54

This study reports a comprehensive environmental scan of the generative AI (GenAI) infrastructure in the national network for clinical and translational science across 36 instituti…

cs.CL2024★ 10 cited

Vision-Language and Large Language Model Performance in Gastroenterology: GPT, Claude, Llama, Phi, Mistral, Gemma, and Quantized Models

Seyed Amir Ahmad Safavi-Naini, Shuhaib Ali, Omer Shahab +15

Background and Aims: This study evaluates the medical reasoning performance of large language models (LLMs) and vision language models (VLMs) in gastroenterology. Methods: We used…

cs.LG2024★ 3 cited

Large Language Models versus Classical Machine Learning: Performance in COVID-19 Mortality Prediction Using High-Dimensional Tabular Data

Mohammadreza Ghaffarzadeh-Esfahani, Mahdi Ghaffarzadeh-Esfahani, Arian Salahi-Niri +39

This study compared the performance of classical feature-based machine learning models (CMLs) and large language models (LLMs) in predicting COVID-19 mortality using high-dimension…

stat.AP2024★ 3 cited

Hierarchical Bayesian estimation of motor-evoked potential recruitment curves yields accurate and robust estimates

Vishweshwar Tyagi, Lynda M. Murray, Ahmet S. Asan +5

Electromagnetic stimulation probes and modulates the neural systems that control movement. Key to understanding their effects is the muscle recruitment curve, which maps evoked pot…

eess.IV2024★ 2 cited

X-ray2CTPA: Leveraging Diffusion Models to Enhance Pulmonary Embolism Classification

Noa Cahan, Eyal Klang, Galit Aviram +4

Chest X-rays or chest radiography (CXR), commonly used for medical diagnostics, typically enables limited imaging compared to computed tomography (CT) scans, which offer more detai…

cs.CL2024★ 22 cited

Two-Layer Retrieval-Augmented Generation Framework for Low-Resource Medical Question Answering Using Reddit Data: Proof-of-Concept Study

Sudeshna Das, Yao Ge, Yuting Guo +19

The increasing use of social media to share lived and living experiences of substance use presents a unique opportunity to obtain information on side effects, use patterns, and opi…

cs.CL2024★ 31 cited

Extracting Social Support and Social Isolation Information from Clinical Psychiatry Notes: Comparing a Rule-based NLP System and a Large Language Model

Braja Gopal Patra, Lauren A. Lepow, Praneet Kasi Reddy Jagadeesh Kumar +16

Background: Social support (SS) and social isolation (SI) are social determinants of health (SDOH) associated with psychiatric outcomes. In electronic health records (EHRs), indivi…

cs.CL2024★ 11 cited

COMPASS: Computational Mapping of Patient-Therapist Alliance Strategies with Language Modeling

Baihan Lin, Djallel Bouneffouf, Yulia Landa +3

The therapeutic working alliance is a critical predictor of psychotherapy success. Traditionally, working alliance assessment relies on questionnaires completed by both therapists…

eess.IV2024★ 2 cited

VIS-MAE: An Efficient Self-supervised Learning Approach on Medical Image Segmentation and Classification

Zelong Liu, Andrew Tieu, Nikhil Patel +9

Artificial Intelligence (AI) has the potential to revolutionize diagnosis and segmentation in medical imaging. However, development and clinical implementation face multiple challe…

eess.IV2024★ 4 cited

MRAnnotator: multi-Anatomy and many-Sequence MRI segmentation of 44 structures

Alexander Zhou, Zelong Liu, Andrew Tieu +16

In this retrospective study, we annotated 44 structures on two datasets: an internal dataset of 1,518 MRI sequences from 843 patients at the Mount Sinai Health System, and an exter…

stat.ME2024

Prediction of causal genes at GWAS loci with pleiotropic gene regulatory effects using sets of correlated instrumental variables

Mariyam Khan, Adriaan-Alexander Ludl, Sean Bankier +2

Multivariate Mendelian randomization (MVMR) is a statistical technique that uses sets of genetic instruments to estimate the direct causal effects of multiple exposures on an outco…

cs.CV2023★ 6 cited

Structural-Based Uncertainty in Deep Learning Across Anatomical Scales: Analysis in White Matter Lesion Segmentation

Nataliia Molchanova, Vatsal Raina, Andrey Malinin +7

This paper explores uncertainty quantification (UQ) as an indicator of the trustworthiness of automated deep-learning (DL) tools in the context of white matter lesion (WML) segment…

physics.soc-ph2023★ 17 cited

Boosting advice and knowledge sharing among healthcare professionals

A. Fronzetti Colladon, F. Grippa, C. Broccatelli +6

Purpose: This study investigates the dynamics of knowledge sharing in healthcare, exploring some of the factors that are more likely to influence the evolution of idea sharing and…