Related papers: GWAS Summary Statistic Tool: A Meta-Analysis and P…
Objective: SNP heritability estimates vary substantially across estimation strategies, yet the downstream consequences for polygenic risk score (PRS) construction remain poorly characterised. We systematically benchmarked heritability…
Drug development is a very costly and lengthy process, while repositioned or repurposed drugs could be brought into clinical practice within a shorter time-frame and at a much reduced cost. The past decade has observed a massive growth in…
Pulsar searching with next-generation radio telescopes requires efficiently sifting through millions of candidates generated by search pipelines to identify the most promising ones. This challenge has motivated the utilization of Artificial…
The development and generation of synthetic data are becoming increasingly vital in the field of statistical disclosure control. The PSInference package provides tools to perform exact inferential analysis on singly imputed synthetic data…
We describe a new algorithm and R package for peak detection in genomic data sets using constrained changepoint algorithms. These detect changes from background to peak regions by imposing the constraint that the mean should alternately…
We show that the signal-processing paradigm known as compressed sensing (CS) is applicable to genome-wide association studies (GWAS) and genomic selection (GS). The aim of GWAS is to isolate trait-associated loci, whereas GS attempts to…
Gaussian Process Regression (GPR) is widely used in statistics and machine learning for prediction tasks requiring uncertainty measures. Its efficacy depends on the appropriate specification of the mean function, covariance kernel function,…
Survival analysis based on Whole Slide Images (WSIs) is crucial for evaluating cancer prognosis, as they offer detailed microscopic information essential for predicting patient outcomes. However, traditional WSI-based survival analysis…
Estimating the causal treatment effects by subgroups is important in observational studies when the treatment effect heterogeneity may be present. Existing propensity score methods rely on a correctly specified propensity score model. Model…
Background/aims: While randomized controlled trials are the gold standard for measuring causal effects, robust conclusions about causal relationships can be obtained using data from observational studies if proper statistical techniques are…
Existing benchmarks for systematic reviewing remain limited either in scale or in disciplinary coverage, with some collections comprising only a modest number of topics and others focusing primarily on biomedical research. We present…
Statistical methods for genomewide association studies (GWAS) continue to improve. However, the increasing volume and variety of genetic and genomic data make computational speed and ease of data manipulation mandatory in future software.…
Gaussian Processes (GPs) are widely used tools in statistics, machine learning, robotics, computer vision, and scientific computation. However, despite their popularity, they can be difficult to apply; all but the simplest classification or…
Ex-post harmonisation is one of many data preprocessing processes used to combine the increasingly vast and diverse sources of data available for research and analysis. Documenting provenance and ensuring the quality of multi-source…
Assessing developer proficiency in open-source software (OSS) projects is essential for understanding project dynamics, especially for expertise. This paper presents PyGress, a web-based tool designed to automatically evaluate and visualize…
Eliciting preferences from human judgements is inherently imprecise, yet most decision analysis methods force a single priority vector from pairwise comparisons, discarding the information embedded in inconsistencies. We instead leverage…
Projection-based testing for mean trajectory differences in two groups of irregularly and sparsely observed functional data has garnered significant attention in the literature because it accommodates a wide spectrum of group differences…
The widespread usage of Microsoft Windows has unfortunately led to a surge in malware, posing a serious threat to the security and privacy of millions of users. In response, the research community has mobilized, with numerous efforts…
Conducting genome-wide association studies (GWAS) in copy number variation (CNV) level is a field where few people involves and little statistical progresses have been achieved, traditional methods suffer from many problems such as batch…
Because biological processes can make different loci have different evolutionary histories, species tree estimation requires multiple loci from across the genome. While many processes can result in discord between gene trees and species…