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Congenital heart disease is among the most common fetal abnormalities and birth defects. Despite identifying numerous risk factors influencing its onset, a comprehensive understanding of its genesis and management across diverse populations…

Image and Video Processing · Electrical Eng. & Systems 2025-01-09 Khalil Khan , Farhan Ullah , Ikram Syed , Irfan Ullah

Understanding the relationships between different properties of data, such as whether a connectome or genome has information about disease status, is becoming increasingly important in modern biological datasets. While existing approaches…

Machine Learning · Statistics 2024-06-27 Joshua T. Vogelstein , Eric Bridgeford , Qing Wang , Carey E. Priebe , Mauro Maggioni , Cencheng Shen

Genetic interaction measures how different genes collectively contribute to a phenotype, and can reveal functional compensation and buffering between pathways under genetic perturbations. Recently, genome-wide screening for genetic…

Molecular Networks · Quantitative Biology 2015-03-17 Gang Fang , Wen Wang , Vanja Paunic , Benjamin Oately , Majda Haznadar , Michael Steinbach , Brian Van Ness , Chad L. Myers , Vipin Kumar

The concept of personalised medicine in cancer therapy is becoming increasingly important. There already exist drugs administered specifically for patients with tumours presenting well-defined mutations. However, the field is still in its…

Biomolecules · Quantitative Biology 2024-08-26 Abbi Abdel-Rehim , Oghenejokpeme Orhobor , Gareth Griffiths , Larisa Soldatova , Ross D. King

Cancer is a complex genetic disease involving uncontrolled cell growth and proliferation, and necessitates effective targeting of dysregulated cellular pathways underlying cancer progression. Multiple genetic and epigenetic alterations…

Other Quantitative Biology · Quantitative Biology 2026-01-28 Manish Kumar

Synthetic biologists have made great progress over the past decade in developing methods for modular assembly of genetic sequences and in engineering biological systems with a wide variety of functions in various contexts and organisms.…

Gene interaction graphs aim to capture various relationships between genes and represent decades of biology research. When trying to make predictions from genomic data, those graphs could be used to overcome the curse of dimensionality by…

We calculate the mutual information function for each of the 24 chromosomes in the human genome. The same correlation pattern is observed regardless the individual functional features of each chromosome. Moreover, correlations of different…

Genomics · Quantitative Biology 2007-05-23 R. Mansilla , N. Del Castillo , T. Govezensky , P. Miramontes , M. Jose , G. Coch

Gene Ontology (GO) is the primary gene function knowledge base that enables computational tasks in biomedicine. The basic element of GO is a term, which includes a set of genes with the same function. Existing research efforts of GO mainly…

Artificial Intelligence · Computer Science 2022-06-27 Fenglin Liu , Bang Yang , Chenyu You , Xian Wu , Shen Ge , Adelaide Woicik , Sheng Wang

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

Ontologies present an attractive technology for describing bio-medicine, because they can be shared, and have rich computational properties. However, they lack the rich expressivity of English and fit poorly with the current scientific…

Digital Libraries · Computer Science 2015-12-15 Phillip Lord , Jennifer Warrendar

Cell-to-cell heterogeneity drives a range of (patho)physiologically important phenomena, such as cell fate and chemotherapeutic resistance. The role of metabolism, and particularly mitochondria, is increasingly being recognised as an…

Subcellular Processes · Quantitative Biology 2019-02-11 Juvid Aryaman , Iain G. Johnston , Nick S. Jones

Personalised medicine strives to identify the right treatment for the right patient at the right time, integrating different types of biological and environmental information. Such information come from a variety of sources: omics data…

Applications · Statistics 2014-01-14 Marco Scutari

Cancer, as the uncontrollable cell growth, is related to many branches of biology. In this review, we will discuss three mathematical approaches for studying cancer biology: population dynamics, gene regulation, and developmental biology.…

Other Quantitative Biology · Quantitative Biology 2023-01-27 Yue Wang

While coreference resolution is traditionally used as a component in individual document understanding, in this work we take a more global view and explore what can we learn about a domain from the set of all document-level coreference…

Computation and Language · Computer Science 2024-10-23 Shir Ashury-Tahan , Amir David Nissan Cohen , Nadav Cohen , Yoram Louzoun , Yoav Goldberg

Single gene mutations have been implicated in the pathogenesis of a form of diabetes mellitus (DM) known as the maturity-onset diabetes of the young (MODY). However, there are diverse opinions on the suspect genes and pathophysiology,…

Genomics · Quantitative Biology 2021-01-19 Tajudeen O. Yahaya , Shemishere B. Ufuoma

A computational challenge to validate the candidate disease genes identified in a high-throughput genomic study is to elucidate the associations between the set of candidate genes and disease phenotypes. The conventional gene set enrichment…

Genomics · Quantitative Biology 2011-02-22 TaeHyun Hwang , Wei Zhang , Maoqiang Xie , Rui Kuang

How can we identify causal genetic mechanisms that govern bacterial traits? Initial efforts entrusting machine learning models to handle the task of predicting phenotype from genotype return high accuracy scores. However, attempts to…

Genomics · Quantitative Biology 2025-02-12 Tamsin James , Ben Williamson , Peter Tino , Nicole Wheeler

In this study, we executed a genomic analysis with the objective of selecting a set of genes (possibly small) that would help in the detection and classification of samples from patients affected by Parkinson Disease. We performed a…

Machine Learning · Computer Science 2016-02-24 Giancarlo Crocetti , Michael Coakley , Phil Dressner , Wanda Kellum , Tamba Lamin

Due to the recent evolution of sequencing techniques, the number of available genomes is rising steadily, leading to the possibility to make large scale genomic comparison between sets of close species. An interesting question to answer is:…

Computational Engineering, Finance, and Science · Computer Science 2014-09-24 Bassam AlKindy , Jean-François Couchot , Christophe Guyeux , Arnaud Mouly , Michel Salomon , Jacques M. Bahi