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Following genetic ancestry in eukaryote populations poses several open problems due to sexual reproduction and recombination. The history of extant genetic material is usually modeled backwards in time, but tracking chromosomes at a large…

Populations and Evolution · Quantitative Biology 2025-06-23 Juliette Luiselli , Manuel Lafond

Over the past two decades, the field of high-dimensional statistics has experienced substantial progress, driven largely by technological advances that have dramatically reduced the cost and effort for data collection and storage across a…

Understanding functional organization of genetic information is a major challenge in modern biology. Following the initial publication of the human genome sequence in 2001, advances in high-throughput measurement technologies and efficient…

Machine Learning · Statistics 2011-03-01 Leo Lahti

High-dimensional phenotypes hold promise for richer findings in association studies, but testing of several phenotype traits aggravates the grand challenge of association studies, that of multiple testing. Several methods have recently been…

Methodology · Statistics 2013-05-14 Pekka Marttinen , Jussi Gillberg , Aki Havulinna , Jukka Corander , Samuel Kaski

Recent advances in DNA sequencing technologies have put ubiquitous availability of fully sequenced human genomes within reach. It is no longer hard to imagine the day when everyone will have the means to obtain and store one's own DNA…

Cryptography and Security · Computer Science 2015-03-19 Pierre Baldi , Roberta Baronio , Emiliano De Cristofaro , Paolo Gasti , Gene Tsudik

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…

Genomics · Quantitative Biology 2020-04-28 Daniel Mas Montserrat , Arvind Kumar , Carlos Bustamante , Alexander Ioannidis

The biological world, especially its majority microbial component, is strongly interacting and may be dominated by collective effects. In this review, we provide a brief introduction for statistical physicists of the way in which living…

Populations and Evolution · Quantitative Biology 2015-05-20 Nicholas Chia , Nigel Goldenfeld

Progress in Whole Genome Sequencing (WGS) will soon allow a large number of individuals to have their genome fully sequenced. This lays the foundations to improve modern healthcare, enabling a new era of personalized medicine where…

Cryptography and Security · Computer Science 2014-02-03 Emiliano De Cristofaro

Generative Artificial Intelligence (GenAI) is taking the world by storm. It promises transformative opportunities for advancing and disrupting existing practices, including healthcare. From large language models (LLMs) for clinical note…

Artificial Intelligence · Computer Science 2025-10-29 Gang Chen , Changshuo Liu , Gene Anne Ooi , Marcus Tan , Zhongle Xie , Jianwei Yin , James Wei Luen Yip , Wenqiao Zhang , Jiaqi Zhu , Beng Chin Ooi

Core-collapse Supernovae (CCSNe) mark the deaths of stars more massive than about eight times the mass of the sun and are intrinsically the most common kind of catastrophic cosmic explosions. They can teach us about many important physical…

High Energy Astrophysical Phenomena · Physics 2019-08-08 Maryam Modjaz , Claudia P. Gutierrez , Iair Arcavi

The human microbiome is the ensemble of genes in the microbes that live inside and on the surface of humans. Because microbial sequencing information is now much easier to come by than phenotypic information, there has been an explosion of…

Populations and Evolution · Quantitative Biology 2014-07-08 Frederick A Matsen

When an individual's DNA is sequenced, sensitive medical information becomes available to the sequencing laboratory. A recently proposed way to hide an individual's genetic information is to mix in DNA samples of other individuals. We…

Information Theory · Computer Science 2024-11-05 Kayvon Mazooji , Roy Dong , Ilan Shomorony

High throughput genome sequencing technologies such as RNA-Seq and Microarray have the potential to transform clinical decision making and biomedical research by enabling high-throughput measurements of the genome at a granular level.…

Machine learning (ML) is revolutionizing the world, affecting almost every field of science and industry. Recent algorithms (in particular, deep networks) are increasingly data-hungry, requiring large datasets for training. Thus, the…

Machine Learning · Computer Science 2022-11-16 Chen Shani , Jonathan Zarecki , Dafna Shahaf

Disease heterogeneity has been a critical challenge for precision diagnosis and treatment, especially in neurologic and neuropsychiatric diseases. Many diseases can display multiple distinct brain phenotypes across individuals, potentially…

Detecting quality in large unstructured datasets requires capacities far beyond the limits of human perception and communicability and, as a result, there is an emerging trend towards increasingly complex analytic solutions in data science…

Clonal organisms present a particular challenge in population genetics because, in addition to the possible existence of replicates of the same genotype in a given sample, some of the hypotheses and concepts underlying classical population…

The problem addressed here is that of simultaneous treatment of several gene expression datasets, possibly collected under different experimental conditions and/or platforms. Using robust statistics, a large scale statistical analysis has…

Methodology · Statistics 2014-10-10 Bernard Ycart , Konstantina Charmpi , Sophie Rousseaux , Jean-Jacques Fournié

Genomic data I used in many fields but, it has become known that most of the platforms used in the sequencing process produce significant errors. This means that the analysis and inferences generated from these data may have some errors…

Genomics · Quantitative Biology 2024-09-05 Ferdinand Kartriku , Robert Sowah , Charles Saah

Sky surveys represent a fundamental data basis for astronomy. We use them to map in a systematic way the universe and its constituents, and to discover new types of objects or phenomena. We review the subject, with an emphasis on the…

Instrumentation and Methods for Astrophysics · Physics 2015-05-20 S. G. Djorgovski , A. A. Mahabal , A. J. Drake , M. J. Graham , C. Donalek