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Important objectives in cancer research are the prediction of a patient's risk based on molecular measurements such as gene expression data and the identification of new prognostic biomarkers (e.g. genes). In clinical practice, this is…

应用统计 · 统计学 2020-04-17 Katrin Madjar , Manuela Zucknick , Katja Ickstadt , Jörg Rahnenführer

A platform trial with a master protocol provides an infrastructure to ethically and efficiently evaluate multiple treatment options in multiple diseases. Given that certain study drugs can enter or exit a platform trial, the randomization…

统计方法学 · 统计学 2025-07-15 Tianyu Zhan , Jane Zhang , Lei Shu , Yihua Gu

The computational problem of inferring the full haplotype of a cell starting from read sequencing data is known as haplotype assembly, and consists in assigning all heterozygous Single Nucleotide Polymorphisms (SNPs) to exactly one of the…

High-throughput genetic and epigenetic data are often screened for associations with an observed phenotype. For example, one may wish to test hundreds of thousands of genetic variants, or DNA methylation sites, for an association with…

统计方法学 · 统计学 2017-10-20 Eric F. Lock , David B. Dunson

In this paper, we study the problem of testing the mean vectors of high dimensional data in both one-sample and two-sample cases. The proposed testing procedures employ maximum-type statistics and the parametric bootstrap techniques to…

统计理论 · 数学 2018-01-23 Jinyuan Chang , Chao Zheng , Wen-Xin Zhou , Wen Zhou

Statistical models for networks with complex dependencies pose particular challenges for model selection and evaluation. In particular, many well-established statistical tools for selecting between models assume conditional independence of…

统计方法学 · 统计学 2019-08-20 Fan Yin , Nolan Edward Phillips , Carter T. Butts

Understanding how genes influence phenotype across species is a fundamental challenge in genetic engineering, which will facilitate advances in various fields such as crop breeding, conservation biology, and personalized medicine. However,…

机器学习 · 计算机科学 2025-03-11 Mengdi Liu , Zhangyang Gao , Hong Chang , Stan Z. Li , Shiguang Shan , Xilin Chen

To date, most genetic analyses of phenotypes have focused on analyzing single traits or, analyzing each phenotype independently. However, joint epistasis analysis of multiple complementary traits will increase statistical power, and hold…

基因组学 · 定量生物学 2015-12-04 Futao Zhang , Dan Xie , Meimei Liang , Momiao Xiong

Motivation: The discovery of relationships between gene expression measurements and phenotypic responses is hampered by both computational and statistical impediments. Conventional statistical methods are less than ideal because they either…

统计方法学 · 统计学 2019-07-16 Lei Ding , Daniel J. McDonald

Modern scientific studies often require the identification of a subset of relevant explanatory variables, in the attempt to understand an interesting phenomenon. Several statistical methods have been developed to automate this task, but…

统计方法学 · 统计学 2019-05-14 Matteo Sesia , Chiara Sabatti , Emmanuel J. Candès

Genome-wide association studies (GWAS) have led to the discovery of numerous single nucleotide polymorphisms (SNPs) associated with various phenotypes and complex diseases. However, the identified genetic variants do not fully explain the…

统计方法学 · 统计学 2025-07-09 Dayeon Jung , Yewon Kim , Junyong Park

While much effort has focused on detecting positive and negative directional selection in the human genome, relatively little work has been devoted to balancing selection. This lack of attention is likely due to the paucity of sophisticated…

种群与进化 · 定量生物学 2013-07-17 Michael DeGiorgio , Kirk E. Lohmueller , Rasmus Nielsen

This paper reviews and compares methods to assess treatment effect heterogeneity in the context of parametric regression models. These methods include the standard likelihood ratio tests, bootstrap likelihood ratio tests, and Goeman's…

应用统计 · 统计学 2026-02-06 Yao Chen , Sophie Sun , Konstantinos Sechidis , Cong Zhang , Torsten Hothorn , Björn Bornkamp

Background: Heritability is a central measure in genetics quantifying how much of the variability observed in a trait is attributable to genetic differences. Existing methods for estimating heritability are most often based on random-effect…

应用统计 · 统计学 2022-08-26 The Tien Mai , Paul Turner , Jukka Corander

Predicting genetic perturbations enables the identification of potentially crucial genes prior to wet-lab experiments, significantly improving overall experimental efficiency. Since genes are the foundation of cellular life, building gene…

定量方法 · 定量生物学 2025-05-09 Changxi Chi , Jun Xia , Jingbo Zhou , Jiabei Cheng , Chang Yu , Stan Z. Li

Many complex disease syndromes such as asthma consist of a large number of highly related, rather than independent, clinical phenotypes, raising a new technical challenge in identifying genetic variations associated simultaneously with…

机器学习 · 统计学 2008-11-16 Seyoung Kim , Kyung-Ah Sohn , Eric P. Xing

In molecular research, the modelling and analysis of molecules through simulation is an important part that has a direct influence on medical development, material science and drug discovery. The processing power required to design protein…

量子物理 · 物理学 2026-03-24 Prateek Jain , Param Pathak , Krishna Bhatia , Shalini Devendrababu , Srinjoy Ganguly

Where causal SNPs (single nucleotide polymorphisms) tend to accumulate within biological pathways, the incorporation of prior pathways information into a statistical model is expected to increase the power to detect true associations in a…

统计方法学 · 统计学 2012-01-30 Matt Silver , Giovanni Montana

Recent studies demonstrate that effective healthcare can benefit from using the human genomic information. For instance, analysis of tumor genomes has revealed 140 genes whose mutations contribute to cancer. As a result, many institutions…

密码学与安全 · 计算机科学 2017-03-09 Md Nazmus Sadat , Md Momin Al Aziz , Noman Mohammed , Feng Chen , Shuang Wang , Xiaoqian Jiang

After its introduction in 1982, the Hopfield model has been extensively applied for classification and pattern recognition. Recently, its great potential in gene expression patterns retrieval has also been shown. Following this line, we…

定量方法 · 定量生物学 2019-02-07 Laura Cantini , Michele Caselle