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With declining sequencing costs a promising and affordable tool is emerging in cancer diagnostics: genomics. By using association studies, genomic variants that predispose patients to specific cancers can be identified, while by using tumor…

基因组学 · 定量生物学 2020-04-28 Daniel Mas Montserrat , Arvind Kumar , Carlos Bustamante , Alexander Ioannidis

A computationally simple genome-wide association study (GWAS) algorithm for estimating the main and epistatic effects of markers or single nucleotide polymorphisms (SNPs) is proposed. It is based on the intuitive assumption that changes of…

定量方法 · 定量生物学 2017-08-08 Lev V. Utkin , Irina L. Utkina

The Genographic Project is an international effort using genetic data to chart human migratory history. The project is non-profit and non-medical, and through its Legacy Fund supports locally led efforts to preserve indigenous and…

Motivation: Most existing methods for DNA sequence analysis rely on accurate sequences or genotypes. However, in applications of the next-generation sequencing (NGS), accurate genotypes may not be easily obtained (e.g. multi-sample…

基因组学 · 定量生物学 2013-03-19 Heng Li

Clustering is a difficult and widely-studied data mining task, with many varieties of clustering algorithms proposed in the literature. Nearly all algorithms use a similarity measure such as a distance metric (e.g. Euclidean distance) to…

神经与进化计算 · 计算机科学 2019-10-24 Andrew Lensen , Bing Xue , Mengjie Zhang

Genome-wide association studies (GWASs) aim to detect genetic risk factors for complex human diseases by identifying disease-associated single-nucleotide polymorphisms (SNPs). The traditional SNP-wise approach along with multiple testing…

统计方法学 · 统计学 2019-09-25 Yan Xu , Li Xing , Jessica Su , Xuekui Zhang , Weiliang Qiu

We propose a resampling-based fast variable selection technique for detecting relevant single nucleotide polymorphisms (SNP) in a multi-marker mixed effect model. Due to computational complexity, current practice primarily involves testing…

应用统计 · 统计学 2025-04-30 Subhabrata Majumdar , Saonli Basu , Matt McGue , Snigdhansu Chatterjee

Genome-wide eQTL mapping explores the relationship between gene expression values and DNA variants to understand genetic causes of human disease. Due to the large number of genes and DNA variants that need to be assessed simultaneously,…

应用统计 · 统计学 2018-04-10 Jacob Rhyne , Jung-Ying Tzeng , Teng Zhang , X. Jessie Jeng

The value of luxury goods, particularly investment-grade gemstones, is greatly influenced by their origin and authenticity, sometimes resulting in differences worth millions of dollars. Traditionally, human experts have determined the…

计算机视觉与模式识别 · 计算机科学 2023-06-12 Tommaso Bendinelli , Luca Biggio , Daniel Nyfeler , Abhigyan Ghosh , Peter Tollan , Moritz Alexander Kirschmann , Olga Fink

Cluster analysis of biological samples using gene expression measurements is a common task which aids the discovery of heterogeneous biological sub-populations having distinct mRNA profiles. Several model-based clustering algorithms have…

统计方法学 · 统计学 2012-01-30 Alberto Cozzini , Ajay Jasra , Giovanni Montana

Pedigree GWAS (Option 29) in the current version of the Mendel software is an optimized subroutine for performing large scale genome-wide QTL analysis. This analysis (a) works for random sample data, pedigree data, or a mix of both, (b) is…

应用统计 · 统计学 2014-08-01 Hua Zhou , Jin Zhou , Tao Hu , Eric M Sobel , Kenneth Lange

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…

基因组学 · 定量生物学 2018-01-08 Rachel Jeitziner , Mathieu Carrière , Jacques Rougemont , Steve Oudot , Kathryn Hess , Cathrin Brisken

Identifying disease-associated genes enables the development of precision medicine and the understanding of biological processes. Genome-wide association studies (GWAS), gene expression data, biological pathway analysis, and protein network…

基因组学 · 定量生物学 2026-03-10 Muhammad Muneeb , David B. Ascher , YooChan Myung

Motivation: Genome-Wide Association Studies (GWAS) seek to identify causal genomic variants associated with rare human diseases. The classical statistical approach for detecting these variants is based on univariate hypothesis testing, with…

统计方法学 · 统计学 2018-10-22 Florent Guinot , Marie Szafranski , Christophe Ambroise , Franck Samson

Genetic data are frequently categorical and have complex dependence structures that are not always well understood. For this reason, clustering and classification based on genetic data, while highly relevant, are challenging statistical…

统计方法学 · 统计学 2016-06-13 Gabriela Bettella Cybis , Marcio Valk , Silvia Regina Costa Lopes

A first step in exploring population structure in crop plants and other organisms is to define the number of subpopulations that exist for a given data set. The genetic marker data sets being generated have become increasingly large over…

应用统计 · 统计学 2014-01-09 Mark A. Newell , Dianne Cook , Heike Hofmann , Jean-Luc Jannink

Traditionally, heritability has been estimated using family-based methods such as twin studies. Advancements in molecular genomics have facilitated the development of alternative methods that utilise large samples of unrelated or related…

After the completion of human genome sequence was anounced, it is evident that interpretation of DNA sequences is an immediate task to work on. For understanding their signals, improvement of present sequence analysis tools and developing…

计算复杂性 · 计算机科学 2007-05-23 Gene Kim , MyungHo Kim

Genomic regions (or loci) displaying outstanding correlation with some environmental variables are likely to be under selection and this is the rationale of recent methods of identifying selected loci and retrieving functional information…

种群与进化 · 定量生物学 2013-08-13 Gilles Guillot

GoTools is a program which solves life & death problems in the game of Go. This paper describes experiments using a Genetic Algorithm to optimize heuristic weights used by GoTools' tree-search. The complete set of heuristic weights is…

神经与进化计算 · 计算机科学 2007-05-23 Matthew Pratola , Thomas Wolf
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