Related papers: COGEDAP: A COmprehensive GEnomic Data Analysis Pla…
The Genomic Foundation Model (GFM) paradigm is expected to facilitate the extraction of generalizable representations from massive genomic data, thereby enabling their application across a spectrum of downstream applications. Despite…
Genomic data has become increasingly accessible to the general public with the advent of companies offering whole genome sequencing at a relatively low cost. However, their reports are not verifiable due to a lack of crucial details and…
This paper provides a global picture about the deployment of networked processing services for genomic data sets. Many current research make an extensive use genomic data, which are massive and rapidly increasing over time. They are…
Objective: The objective was to develop a cloud-based, federated system to serve as a single point of search, discovery and analysis for data generated under the NIH Helping to End Addiction Long-term (HEAL) Initiative. Materials and…
Generative AI has the potential to transform knowledge work, but further research is needed to understand how knowledge workers envision using and interacting with generative AI. We investigate the development of generative AI tools to…
The overall aim of the software industry is to ensure delivery of high quality software to the end user. To ensure high quality software, it is required to test software. Testing ensures that software meets user specifications and…
The variance component tests used in genomewide association studies of thousands of individuals become computationally exhaustive when multiple traits are analysed in the context of omics studies. We introduce two high-throughput algorithms…
2 Diabetes is a leading worldwide public health concern, and its increasing prevalence has significant health and economic importance in all nations. The condition is a multifactorial disorder with a complex aetiology. The genetic…
Y haplogroup analyses are an important component of genealogical reconstruction, population genetic analyses, medical genetics and forensics. These fields are increasingly moving towards use of low-coverage, high throughput sequencing.…
In multicenter biomedical research, integrating data from multiple decentralized sites provides more robust and generalizable findings due to its larger sample size and the ability to account for the between-site heterogeneity. However,…
Data standardization is a crucial part of the data science life cycle. While tools like Pandas offer robust functionalities, their complexity and the manual effort required for customizing code to diverse column types pose significant…
Motivation: Genome-wide association studies (GWASs), which assay more than a million single nucleotide polymorphisms (SNPs) in thousands of individuals, have been widely used to identify genetic risk variants for complex diseases. However,…
Domain adaptation (DA) offers a valuable means to reuse data and models for new problem domains. However, robust techniques have not yet been considered for time series data with varying amounts of data availability. In this paper, we make…
Genome-wide association studies (GWASs) have been extensively adopted to depict the underlying genetic architecture of complex diseases. Motivated by GWASs' limitations in identifying small effect loci to understand complex traits'…
In the context of the genome-wide association studies (GWAS), one has to solve long sequences of generalized least-squares problems; such a task has two limiting factors: execution time --often in the range of days or weeks-- and data…
Research on the localization of the genetic basis associated with diseases or traits has been widely conducted in the last a few decades. Scan methods have been developed for region-based analysis in whole-genome association studies,…
Aims: Our Gulf War Illness (GWI) study conducts combinatorial screening of many interactive neural and humoral biomarkers in order to establish predictive, diagnostic, and therapeutic targets. We encounter obstacles at every stage of the…
In our research, we investigate the challenges that software engineers face during program comprehension, particularly when debugging unfamiliar codebases. We propose a novel tool, CodeCompass, to address these issues. Our study highlights…
Motivation: Array Comparative Genomic Hybridization (aCGH) is used to scan the entire genome for variations in DNA copy number. A central task in the analysis of aCGH data is the segmentation into groups of probes sharing the same DNA copy…
This thesis investigates the use of problem-specific knowledge to enhance a genetic algorithm approach to multiple-choice optimisation problems.It shows that such information can significantly enhance performance, but that the choice of…