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Related papers: Methodological Issues in Multistage Genome-Wide As…

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Diagnosis and risk stratification of cancer and many other diseases require the detection of genomic breakpoints as a prerequisite of calling copy number alterations (CNA). This, however, is still challenging and requires time-consuming…

Genome-Wide Association Studies (GWAS) offer an exciting and promising new research avenue for finding genes for complex diseases. Traditional case-control and cohort studies offer many advantages for such designs. Family-based association…

Methodology · Statistics 2010-10-25 Nan M. Laird , Christoph Lange

One common approach for dose optimization is a two-stage design, which initially conducts dose escalation to identify the maximum tolerated dose (MTD), followed by a randomization stage where patients are assigned to two or more doses to…

Methodology · Statistics 2024-11-11 Yixuan Zhao , Rachael Liu , Jianchang Lin , Ying Yuan

Modelling gene-gene epistatic interactions when computing genetic risk scores is not a well-explored subfield of genetics and could have potential to improve risk stratification in practice. Though applications of machine learning (ML) show…

Genomics · Quantitative Biology 2023-06-16 Nathaniel Gunter , Prashanthi Vemuri , Vijay Ramanan , Robel K Gebre

This issue includes six articles that develop and apply statistical methods for the analysis of gene sequencing data of different types. The methods are tailored to the different data types and, in each case, lead to biological insights not…

Applications · Statistics 2012-06-29 Karen Kafadar

Group testing is a well-known search problem that consists in detecting of $s$ defective members of a set of $t$ samples by carrying out tests on properly chosen subsets of samples. In classical group testing the goal is to find all…

Information Theory · Computer Science 2019-05-01 Ilya Vorobyev

To uncover the genetic basis of complex disease, individuals are often measured at a large number of genetic variants (usually SNPs) across the genome. GemTools provides computationally efficient tools for modeling genetic ancestry based on…

Applications · Statistics 2011-04-07 Lambertus Klei , Brian P. Kent , Nadine Melhem , Bernie Devlin , Kathryn Roeder

In computational biology and bioinformatics, the manner to understand evolution processes within various related organisms paid a lot of attention these last decades. However, accurate methodologies are still needed to discover genes…

Neural and Evolutionary Computing · Computer Science 2016-11-15 Bassam AlKindy , Christophe Guyeux , Jean-François Couchot , Michel Salomon , Jacques M. Bahi

As synthetic genomics scales toward the construction of increasingly larger genomes, computational strategies are needed to address technical feasibility. We introduce an algorithmic framework for the Minimum-Cost Synthetic Genome Planning…

Genomics · Quantitative Biology 2025-09-09 Michail Patsakis , Ioannis Mouratidis , Ilias Georgakopoulos-Soares

This paper introduces a novel multi-stage decision-making model that integrates hypothesis testing and dynamic programming algorithms to address complex decision-making scenarios.Initially,we develop a sampling inspection scheme that…

Systems and Control · Electrical Eng. & Systems 2025-03-11 Ziyang Liu , Yurui Hu , Yihan Deng

Conventionally, a first-in-human phase I trial in healthy volunteers aims to confirm the safety of a drug in humans. In such situations, volunteers should not suffer from any safety issues and simple algorithm-based dose-escalation schemes…

A protocol for the identification of ancestry informative markers (AIMs) from genome-wide single nucleotide polymorphism (SNP) data is proposed. The protocol consists of three main steps: (a) identification of potential positive selection…

When a novel treatment has successfully passed phase I, different options to design subsequent phase II trials are available. One approach is a single-arm trial, comparing the response rate in the intervention group against a fixed…

Methodology · Statistics 2020-08-03 Johannes Krisam , Dorothea Weber , Richard F. Schlenk , Meinhard Kieser

We first review existing sequential methods for estimating a binomial proportion. Afterward, we propose a new family of group sequential sampling schemes for estimating a binomial proportion with prescribed margin of error and confidence…

Statistics Theory · Mathematics 2013-11-05 Zhengjia Chen , Xinjia Chen

The analysis of screening experiments is often done in two stages, starting with factor selection via an analysis under a main effects model. The success of this first stage is influenced by three components: (1) main effect estimators'…

Methodology · Statistics 2024-03-19 Jonathan W. Stallrich , Michael McKibben

Polygenic risk scores and other genomic analyses require large individual-level genotype datasets, yet strict data access restrictions impede sharing. Synthetic genotype generation offers a privacy-preserving alternative, but most existing…

In the genomic era, the identification of gene signatures associated with disease is of significant interest. Such signatures are often used to predict clinical outcomes in new patients and aid clinical decision-making. However, recent…

Methodology · Statistics 2019-03-27 Naim U. Rashid , Quefeng Li , Jen Jen Yeh , Joseph G. Ibrahim

We propose a new sampling algorithm combining two quite powerful ideas in the Markov chain Monte Carlo literature -- adaptive Metropolis sampler and two-stage Metropolis-Hastings sampler. The proposed sampling method will be particularly…

Computation · Statistics 2021-01-05 Anirban Mondal , Kai Yin , Abhijit Mandal

There is growing interest in platform trials that allow for adding of new treatment arms as the trial progresses as well as being able to stop treatments part way through the trial for either lack of benefit/futility or for superiority. In…

Methodology · Statistics 2021-12-14 Peter Greenstreet , Thomas Jaki , Alun Bedding , Chris Harbron , Pavel Mozgunov

There is a growing need for unbiased clustering methods, ideally automated. We have developed a topology-based analysis tool called Two-Tier Mapper (TTMap) to detect subgroups in global gene expression datasets and identify their…

Genomics · Quantitative Biology 2018-01-08 Rachel Jeitziner , Mathieu Carrière , Jacques Rougemont , Steve Oudot , Kathryn Hess , Cathrin Brisken