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Major efforts to sequence cancer genomes are now occurring throughout the world. Though the emerging data from these studies are illuminating, their reconciliation with epidemiologic and clinical observations poses a major challenge. In the…

Populations and Evolution · Quantitative Biology 2010-11-18 Ivana Bozic , Tibor Antal , Hisashi Ohtsuki , Hannah Carter , Dewey Kim , Sining Chen , Rachel Karchin , Kenneth W. Kinzler , Bert Vogelstein , Martin A. Nowak

While meta-analyzing retrospective cancer patient cohorts, an investigation of differences in the expressions of target oncogenes across cancer subtypes is of substantial interest because the results may uncover novel tumorigenesis…

Methodology · Statistics 2023-07-03 Subharup Guha , David C. Christiani , S. V. Subramanian , Yi Li

Although genome-wide association studies (GWAS) have proven powerful for comprehending the genetic architecture of complex traits, they are challenged by a high dimension of single-nucleotide polymorphisms (SNPs) as predictors, the presence…

Applications · Statistics 2015-09-15 Jiahan Li , Zhong Wang , Runze Li , Rongling Wu

Spatial transcriptomics is an emerging field that enables the identification of functional regions based on the spatial distribution of gene expression. Integrating this functional information present in transcriptomic data with structural…

Computer Vision and Pattern Recognition · Computer Science 2025-11-13 Shanaka Liyanaarachchi , Chathurya Wijethunga , Shihab Aaqil Ahamed , Akthas Absar , Ranga Rodrigo

Optimal design of a Phase I cancer trial can be formulated as a stochastic optimization problem. By making use of recent advances in approximate dynamic programming to tackle the problem, we develop an approximation of the Bayesian optimal…

Methodology · Statistics 2010-12-01 Jay Bartroff , Tze Leung Lai

We propose a novel computational framework leveraging hypergraph theory to analyse cancer stem cell markers (CSCMs) across multiple organs. Hypergraphs provide a robust representation of CSCM co-expression patterns, capturing their complex…

Biological Physics · Physics 2025-08-01 David H. Margarit , Gustavo Paccosi , Marcela V. Reale , Lilia M. Romanelli

A Trial within Cohorts (TwiCs) study design is a trial design that uses the infrastructure of an observational cohort study to initiate a randomized trial. Upon cohort enrollment, cohort participants provided consent for being randomized in…

Methodology · Statistics 2023-05-16 Rob Kessels , Anne M. May , Miriam Koopman , Kit C. B. Roes

We introduce a novel data-driven framework for the design of targeted gene panels for estimating exome-wide biomarkers in cancer immunotherapy. Our first goal is to develop a generative model for the profile of mutation across the exome,…

Genomics · Quantitative Biology 2022-02-04 Jacob R. Bradley , Timothy I. Cannings

Adaptation in response to selection on polygenic phenotypes may occur via subtle allele frequencies shifts at many loci. Current population genomic techniques are not well posed to identify such signals. In the past decade, detailed…

Populations and Evolution · Quantitative Biology 2014-08-19 Jeremy J. Berg , Graham Coop

Genome Wide Association Studies (GWAS) are used to identify statistically significant genetic variants in case-control studies. GWAS typically use a p-value threshold of 5 x 10-8 to identify highly ranked single nucleotide polymorphisms…

Computational Engineering, Finance, and Science · Computer Science 2018-01-10 Paul Fergus , Casimiro Curbelo Montanez , Basma Abdulaimma , Paulo Lisboa , Carl Chalmers

Inferring genetic networks from gene expression data is one of the most challenging work in the post-genomic era, partly due to the vast space of possible networks and the relatively small amount of data available. In this field, Gaussian…

Methodology · Statistics 2011-05-18 Marine Jeanmougin , Mickael Guedj , Christophe Ambroise

Rapid technological advances in radiation therapy have significantly improved dose delivery and tumor control for head and neck cancers. However, treatment-related toxicities caused by high-dose exposure to critical structures remain a…

Reproducibility in genome-wide association studies (GWAS) is crucial for ensuring reliable genomic research outcomes. However, limited access to original genomic datasets (mainly due to privacy concerns) prevents researchers from…

Genomics · Quantitative Biology 2024-11-19 Yuzhou Jiang , Erman Ayday

Tumors are extremely heterogeneous and comprise of a number of intratumor microenvironments or sub-regions. These tumor microenvironments may interact with eac based on complex high-level relationships, which could provide important insight…

Quantitative Methods · Quantitative Biology 2019-01-29 Vishwa S. Parekh , Michael A. Jacobs

Enrichment of predictive models with new biomolecular markers is an important task in high-dimensional omic applications. Increasingly, clinical studies include several sets of such omics markers available for each patient, measuring…

Cancer progression and monotonic accumulation models were developed to discover dependencies in the irreversible acquisition of binary traits from cross-sectional data. They have been used in computational oncology and virology but also in…

Populations and Evolution · Quantitative Biology 2025-05-12 Ramon Diaz-Uriarte , Iain G. Johnston

Multi-gene panel testing allows many cancer susceptibility genes to be tested quickly at a lower cost making such testing accessible to a broader population. Thus, more patients carrying pathogenic germline mutations in various…

Bioinformatics tools have been developed to interpret gene expression data at the gene set level, and these gene set based analyses improve the biologists' capability to discover functional relevance of their experiment design. While…

Machine Learning · Statistics 2019-01-01 Hung-I Harry Chen , Yu-Chiao Chiu , Tinghe Zhang , Songyao Zhang , Yufei Huang , Yidong Chen

Genetic association studies, in particular the genome-wide association study design, have provided a wealth of novel insights into the aetiology of a wide range of human diseases and traits. The next challenge consists of understanding the…

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…

Methodology · Statistics 2020-11-17 Han Wang , Changhu Wang , Linjie Wu , Ruibin Xi