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One of the most challenging problems in microbiology is to understand how a small fraction of microbes that resists killing by antibiotics can emerge in a population of genetically identical cells, the phenomenon known as persistence or…

Subcellular Processes · Quantitative Biology 2015-06-17 Andrea Rocco , Andrzej M. Kierzek , Johnjoe McFadden

Motivation: Antifungal resistance has become an increasing global concern in both clinical and environmental health. Detecting known resistance mutations directly from sequencing reads, in special metagenomic samples, remains a major…

Genomics · Quantitative Biology 2026-02-20 Henrique RM Antoniolli , Lívia Kmetzsch , Charley C Staats

Antibiotic resistance is a growing public health problem. To gain a fundamental understanding of resistance evolution, a combination of systematic experimental and theoretical approaches is required. Evolution experiments combined with…

Populations and Evolution · Quantitative Biology 2021-05-24 Gabriela Petrungaro , Yuval Mulla , Tobias Bollenbach

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…

Antimicrobial resistance is an emerging global health crisis that is undermining advances in modern medicine and, if unmitigated, threatens to kill 10 million people per year worldwide by 2050. Research over the last decade has demonstrated…

Quantitative Methods · Quantitative Biology 2020-09-24 K. Farquhar , H. Flohr , D. A. Charlebois

Through genome-wide association studies (GWAS), disease susceptible genetic variables can be identified by comparing the genetic data of individuals with and without a specific disease. However, the discovery of these associations poses a…

Machine Learning · Computer Science 2023-08-15 Zhendong Sha , Yuanzhu Chen , Ting Hu

Despite significant progress in dissecting the genetic architecture of complex diseases by genome-wide association studies (GWAS), the signals identified by association analysis may not have specific pathological relevance to diseases so…

Genomics · Quantitative Biology 2019-07-19 Rong Jiao , Xiangning Chen , Eric Boerwinkle , Momiao Xiong

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

Genome-wide association studies (GWAS) have emerged as a rich source of genetic clues into disease biology, and they have revealed strong genetic correlations among many diseases and traits. Some of these genetic correlations may reflect…

Methodology · Statistics 2018-11-28 Luke J. O'Connor , Alkes L. Price

The objective of a genome-wide association study (GWAS) is to associate subsequences of individuals' genomes to the observable characteristics called phenotypes (e.g., high blood pressure). Motivated by the GWAS problem, in this paper we…

Information Theory · Computer Science 2020-10-15 Behrooz Tahmasebi , Mohammad Ali Maddah-Ali , Seyed Abolfazl Motahari

To understand how genetic variants in human genomes manifest in phenotypes -- traits like height or diseases like asthma -- geneticists have sequenced and measured hundreds of thousands of individuals. Geneticists use this data to build…

Machine Learning · Computer Science 2025-07-01 Alan N. Amin , Andres Potapczynski , Andrew Gordon Wilson

Under complete linkage disequilibrium (LD), robust tests often have greater power than Pearson's chi-square test and trend tests for the analysis of case-control genetic association studies. Robust statistics have been used in…

Methodology · Statistics 2010-10-26 Gang Zheng , Jungnam Joo , Dmitri Zaykin , Colin Wu , Nancy Geller

In genome-wide association studies (GWASs), there is an increasing need for detecting the associations between a genetic variant and multiple traits. In studies of complex diseases, it is common to measure several potentially correlated…

Methodology · Statistics 2021-02-04 Qiaolan Deng , Chi Song

Positive selection drives the emergence of adaptive mutations in Mycobacterium tuberculosis, shaping drug resistance, transmissibility, and virulence. Phylogenetic trees capture evolutionary relationships among isolates and provide a…

Populations and Evolution · Quantitative Biology 2025-10-13 Linfeng Wang , Susana Campino , Taane G. Clark , Jody E. Phelan

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…

Methodology · Statistics 2018-10-22 Florent Guinot , Marie Szafranski , Christophe Ambroise , Franck Samson

Lineage tracing, the determination and mapping of progeny arising from single cells, is an important approach enabling the elucidation of mechanisms underlying diverse biological processes ranging from development to disease. We developed a…

CRISPR-Cas systems are an adaptive immunity that protects prokaryotes against foreign genetic elements. Genetic templates acquired during past infection events enable DNA-interacting enzymes to recognize foreign DNA for destruction. Due to…

Genomics · Quantitative Biology 2022-02-16 Hyunjin Shim

2 Diabetes is a leading worldwide public health concern, and its increasing prevalence has significant health and economic importance in all nations. The condition is a multifactorial disorder with a complex aetiology. The genetic…

Machine Learning · Computer Science 2018-08-30 Basma Abdulaimma , Paul Fergus , Carl Chalmers

Rapid identification of bacteria is essential to prevent the spread of infectious disease, help combat antimicrobial resistance, and improve patient outcomes. Raman optical spectroscopy promises to combine bacterial detection,…

Antibiotic resistance is a major threat to global health. It emerges in multispecies microbial communities under antibiotic exposure. This makes antibiotic spectrum -- a drug's distribution of effects across species -- a potential key…

Populations and Evolution · Quantitative Biology 2026-04-21 Magnus Aspenberg , Erik Andreas Martens , Kristofer Wollein Waldetoft