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The widely used genetic pleiotropic analysis of multiple phenotypes are often designed for examining the relationship between common variants and a few phenotypes. They are not suited for both high dimensional phenotypes and high…

机器学习 · 统计学 2015-12-04 Panpan Wang , Mohammad Rahman , Li Jin , Momiao Xiong

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

A grand challenge in biology is to discover evolutionary traits - features of organisms common to a group of species with a shared ancestor in the tree of life (also referred to as phylogenetic tree). With the growing availability of image…

In the near future, all the human genes will be identified. But understanding the functions coded in the genes is a much harder problem. For example, by using block entropy, one has that the DNA code is closer to a random code then written…

数值分析 · 数学 2007-07-13 Torbjörn Lundh

Involved in mitotic condensation, interaction of transcriptional regulatory elements or isolation of structural domains, understanding loop formation is becoming a paradigm in the deciphering of chromatin architecture and its functional…

定量方法 · 定量生物学 2024-09-17 Michaël Liefsoens , Timothy Földes , Maria Barbi

DNA sequencing is the process of determining the exact order of the nucleotide bases of an individual's genome in order to catalogue sequence variation and understand its biological implications. Whole-genome sequencing techniques produce…

数据结构与算法 · 计算机科学 2015-09-18 Ljiljana Brankovic , Costas S. Iliopoulos , Ritu Kundu , Manal Mohamed , Solon P. Pissis , Fatima Vayani

We investigate a densely packed, non-random arrangement of forty-six chromosomes (46,XY) in human nuclei. Here, we model systems-level chromosomal crosstalk by unifying intrinsic parameters (chromosomal length and number of genes) across…

基因组学 · 定量生物学 2017-11-09 Sarosh N. Fatakia , Ishita S. Mehta , Basuthkar J. Rao

The proliferation of models for networks raises challenging problems of model selection: the data are sparse and globally dependent, and models are typically high-dimensional and have large numbers of latent variables. Together, these…

Some mixtures, such as colloids like milk, blood, and gelatin, have homogeneous appearance when viewed with the naked eye, however, to observe them at the nanoscale is possible to understand the heterogeneity of its components. The same…

计算机视觉与模式识别 · 计算机科学 2013-04-17 Núbia Rosa da Silva , Odemir Martinez Bruno

Statistical node clustering in discrete time dynamic networks is an emerging field that raises many challenges. Here, we explore statistical properties and frequentist inference in a model that combines a stochastic block model (SBM) for…

统计方法学 · 统计学 2016-06-23 Catherine Matias , Vincent Miele

In this paper, we aim to discover archetypical patterns of individual evolution in large social networks. In our work, an archetype comprises of $\textit{progressive stages}$ of distinct behavior. We introduce a novel Gaussian Hidden Markov…

社会与信息网络 · 计算机科学 2019-04-08 Kanika Narang , Austin Chung , Hari Sundaram , Snigdha Chaturvedi

While studies show that autism is highly heritable, the nature of the genetic basis of this disorder remains illusive. Based on the idea that highly correlated genes are functionally interrelated and more likely to affect risk, we develop a…

统计方法学 · 统计学 2015-11-18 Li Liu , Jing Lei , Kathryn Roeder

We consider inference about the history of a sample of DNA sequences, conditional upon the haplotype counts and the number of segregating sites observed at the present time. After deriving some theoretical results in the coalescent setting,…

统计理论 · 数学 2018-03-01 Robert C. Griffiths , Simon Tavaré

Computing haplotypes from sequencing data, i.e. haplotype assembly, is an important component of molecular and population genetics problems, including interpreting the effects of genetic variation on complex traits and reconstructing…

基因组学 · 定量生物学 2026-03-12 Marjan Hosseini , Ella Veiner , Thomas Bergendahl , Tala Yasenpoor , Zane Smith , Margaret Staton , Derek Aguiar

In modern scientific studies, it is often imperative to determine whether a set of phenotypes is affected by a single factor. If such an influence is identified, it becomes essential to discern whether this effect is contingent upon…

统计方法学 · 统计学 2024-03-22 Srijan Chattopadhyay , Swapnaneel Bhattacharyya , Sevantee Basu

The comparative genomics revolution of the past decade has enabled the discovery of functional elements in the human genome via sequence comparison. While that is so, an important class of elements, those specific to humans, is entirely…

种群与进化 · 定量生物学 2015-11-24 Daniel R. Schrider , Andrew D. Kern

Genome-wide association studies (GWAS) have identified many genetic factors underlying complex human traits. However, these factors have explained only a small fraction of these traits' genetic heritability. It is argued that many more…

应用统计 · 统计学 2014-08-01 Zheyang Wu , Yiming Sun , Shiquan He , Judy Cho , Hongyu Zhao , Jiashun Jin

Pattern detection and string matching are fundamental problems in computer science and the accelerated expansion of bioinformatics and computational biology have made them a core topic for both disciplines. The SARS-CoV-2 pandemic has made…

基因组学 · 定量生物学 2025-05-14 Konstantinos Xylogiannopoulos

In cancer research, profiling studies have been extensively conducted, searching for genes/SNPs associated with prognosis. Cancer is a heterogeneous disease. Examining similarity and difference in the genetic basis of multiple subtypes of…

统计方法学 · 统计学 2013-04-18 Jin Liu , Jian Huang , Yawei Zhang , Qing Lan , Nathaniel Rothman , Tongzhang Zheng , Shuangge Ma

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
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