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Expansion of the neocortex is a hallmark of human evolution. However, it remains an open question what adaptive mechanisms facilitated its expansion. Here we show, using gyrencephaly index (GI) and other physiological and life-history data…

Populations and Evolution · Quantitative Biology 2015-08-26 Eric Lewitus , Iva Kelava , Alex T. Kalinka , Pavel Tomancak , Wieland B Huttner

Discovering genes with similar functions across diverse biomedical contexts poses a significant challenge in gene representation learning due to data heterogeneity. In this study, we resolve this problem by introducing a novel model called…

Machine Learning · Computer Science 2023-10-05 Tianyu Liu , Yuge Wang , Rex Ying , Hongyu Zhao

Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model…

Quantitative Methods · Quantitative Biology 2015-05-26 Robert Hoehndorf , Paul N Schofield , Georgios V Gkoutos

Modern DNA sequencing technologies enable geneticists to rapidly identify genetic variation among many human genomes. However, isolating the minority of variants underlying disease remains an important, yet formidable challenge for medical…

Genomics · Quantitative Biology 2015-06-15 Uma Paila , Brad Chapman , Rory Kirchner , Aaron Quinlan

Mitochondrial diseases are currently untreatable due to our limited understanding of their pathology. We study the expression of various mitochondrial proteins in skeletal myofibres (SM) in order to discover processes involved in…

Machine Learning · Computer Science 2022-11-01 Atif Khan , Conor Lawless , Amy E Vincent , Satish Pilla , Sushanth Ramesh , A. Stephen McGough

A number of studies have indicated a potential association between prenatal exposure to radiation and late mental disabilities. This is believed to be due to long-term developmental changes and functional impairment of the central nervous…

Neurons and Cognition · Quantitative Biology 2024-04-30 Karolina Kulis , Sarah Baatout , Kevin Tabury , Joanna Polanska , Mohammed Abderrafi Benotmane

Due to recent breakthroughs in state-of-the-art DNA sequencing technology, genomics data sets have become ubiquitous. The emergence of large-scale data sets provides great opportunities for better understanding of genomics, especially gene…

Genomics · Quantitative Biology 2020-12-18 Wei Cheng , Ghulam Murtaza , Aaron Wang

In microarray experiments, it is often of interest to identify genes which have a pre-specified gene expression profile with respect to time. Methods available in the literature are, however, typically not stringent enough in identifying…

Applications · Statistics 2009-01-18 J. Tuke , G. F. V. Glonek , P. J. Solomon

Parkinson's disease (PD) is a highly heterogeneous disease, including which motor symptoms are dominating. Imaging biomarkers that support subtype stratification could also improve biological understanding and study design, and enable…

The evolutionary origins of structural features in reconstructed gene-regulatory networks (GRNs) remain poorly understood, especially given the random aspects of gene expression. Here, we extend a classical model of GRN evolution to allow a…

Populations and Evolution · Quantitative Biology 2026-04-30 Leonardo Ivan Estrella Dzib , James Holehouse

In the clinical treatment of mood disorders, the complex behavioral symptoms presented by patients and variability of patient response to particular medication classes can create difficulties in providing fast and reliable treatment when…

Machine Learning · Computer Science 2024-02-13 Bradley T. Baker , Mustafa S. Salman , Zening Fu , Armin Iraji , Elizabeth Osuch , Jeremy Bockholt , Vince D. Calhoun

Late-life depression (LLD) is characterized by considerable heterogeneity in clinical manifestation. Unraveling such heterogeneity would aid in elucidating etiological mechanisms and pave the road to precision and individualized medicine.…

Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by cognitive decline, structural brain changes, and genetic predispositions. This study leverages machine-learning and statistical techniques to investigate…

Applications · Statistics 2025-10-29 Riddhik Basu , Arkaprava Roy

Joint quantification of genetic and epigenetic effects on gene expression is important for understanding the establishment of complex gene regulation systems in living organisms. In particular, genomic imprinting and maternal effects play…

Genomics · Quantitative Biology 2017-05-24 Yasuaki Takada , Ryutaro Miyagi , Aya Takahashi , Toshinori Endo , Naoki Osada

We propose a novel deep neural network architecture to integrate imaging and genetics data, as guided by diagnosis, that provides interpretable biomarkers. Our model consists of an encoder, a decoder and a classifier. The encoder learns a…

Alzheimer's disease (AD) is a complex, progressive neurodegenerative disorder characterized by extracellular A\b{eta} plaques, neurofibrillary tau tangles, glial activation, and neuronal degeneration, involving multiple cell types and…

Machine Learning · Computer Science 2024-11-19 Anya Chauhan , Ayush Noori , Zhaozhi Li , Yingnan He , Michelle M Li , Marinka Zitnik , Sudeshna Das

This paper is motivated by the joint analysis of genetic, imaging, and clinical (GIC) data collected in the Alzheimer's Disease Neuroimaging Initiative (ADNI) study. We propose a regression framework based on partially functional linear…

Methodology · Statistics 2023-02-23 Ting Li , Yang Yu , J. S. Marron , Hongtu Zhu

Generative adversary networks (GANs) suffer from training pathologies such as instability and mode collapse, which mainly arise from a lack of diversity in their adversarial interactions. Co-evolutionary GAN (CoE-GAN) training algorithms…

Machine Learning · Computer Science 2021-06-28 Jamal Toutouh , Erik Hemberg , Una-May O'Reilly

In recent years, there has been significant development in the analysis of medical data using machine learning. It is believed that the onset of Age-related Macular Degeneration (AMD) is associated with genetic polymorphisms. However,…

Computer Vision and Pattern Recognition · Computer Science 2024-09-18 Yoichi Furukawa , Satoshi Kamiya , Yoichi Sakurada , Kenji Kashiwagi , Kazuhiro Hotta