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Single-cell sequencing has a significant role to explore biological processes such as embryonic development, cancer evolution, and cell differentiation. These biological properties can be presented by a two-dimensional scatter plot.…

Genomics · Quantitative Biology 2021-10-19 Ziyi Liu , Minghui Liao , Fulin luo , Bo Du

A major challenge in biomedical data science is to identify the causal genes underlying complex genetic diseases. Despite the massive influx of genome sequencing data, identifying disease-relevant genes remains difficult as individuals with…

Genomics · Quantitative Biology 2020-01-20 Borislav H. Hristov , Bernard Chazelle , Mona Singh

Modern graph embedding procedures can efficiently process graphs with millions of nodes. In this paper, we propose GEMSEC -- a graph embedding algorithm which learns a clustering of the nodes simultaneously with computing their embedding.…

Social and Information Networks · Computer Science 2019-07-26 Benedek Rozemberczki , Ryan Davies , Rik Sarkar , Charles Sutton

The advent of high--throughput transcription profiling technologies has enabled identification of genes and pathways associated with disease, providing new avenues for precision medicine. A key challenge is to analyze this data in the…

Quantitative Methods · Quantitative Biology 2019-01-11 Sahil D. Shah , Rosemary Braun

DNA sequencing to identify genetic variants is becoming increasingly valuable in clinical settings. Assessment of variants in such sequencing data is commonly implemented through Bayesian heuristic algorithms. Machine learning has shown…

Discrete mixture models provide a well-known basis for effective clustering algorithms, although technical challenges have limited their scope. In the context of gene-expression data analysis, a model is presented that mixes over a finite…

Methodology · Statistics 2012-11-12 Michael A. Newton , Lisa M. Chung

An important challenge in cancer systems biology is to uncover the complex network of interactions between genes (tumor suppressor genes and oncogenes) implicated in cancer. Next generation sequencing provides unparalleled ability to probe…

Genomics · Quantitative Biology 2012-12-10 Ying Cai , Bernard Fendler , Gurinder S. Atwal

Gene expression data is often collected in time series experiments, under different experimental conditions. There may be genes that have very different gene expression profiles over time, but that adjust their gene expression patterns in…

Methodology · Statistics 2021-12-02 Susana Conde , Shahin Tavakoli , Daphne Ezer

RNA-Seq technology allows for studying the transcriptional state of the cell at an unprecedented level of detail. Beyond quantification of whole-gene expression, it is now possible to disentangle the abundance of individual alternatively…

Genomics · Quantitative Biology 2012-10-11 Barbara Rakitsch , Christoph Lippert , Hande Topa , Karsten Borgwardt , Antti Honkela , Oliver Stegle

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…

Spectral clustering is a popular method for community detection in network graphs: starting from a matrix representation of the graph, the nodes are clustered on a low dimensional projection obtained from a truncated spectral decomposition…

Machine Learning · Statistics 2022-08-10 Francesco Sanna Passino , Nicholas A. Heard , Patrick Rubin-Delanchy

Classifying nodes in a graph is a common problem. The ideal classifier must adapt to any imbalances in the class distribution. It must also use information in the clustering structure of real-world graphs. Existing Graph Neural Networks…

In genome-wide interaction studies, to detect gene-gene interactions, most methods are divided into two folds: single nucleotide polymorphisms (SNP) based and gene-based methods. Basically, the methods based on the gene are more effective…

Machine Learning · Statistics 2016-06-02 Md ashad Alam , Osamu Komori , Yu-Ping Wang

Motivation: Modelling methods that find structure in data are necessary with the current large volumes of genomic data, and there have been various efforts to find subsets of genes exhibiting consistent patterns over subsets of treatments.…

Machine Learning · Computer Science 2016-09-15 Kerstin Bunte , Eemeli Leppäaho , Inka Saarinen , Samuel Kaski

Clustering is a fundamental task in data analysis, and spectral clustering has been recognized as a promising approach to it. Given a graph describing the relationship between data, spectral clustering explores the underlying cluster…

Machine Learning · Computer Science 2021-09-08 Tomohiko Mizutani

Motivation: Identifying interaction clusters of large gene regulatory networks (GRNs) is critical for its further investigation, while this task is very challenging, attributed to data noise in experiment data, large scale of GRNs, and…

Machine Learning · Computer Science 2019-10-22 Yu Chen , Yuanyuan Yang , Yaochu Jin , Xiufen Zou

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.…

Clustering multivariate data is a pervasive task in many applied problems, particularly in social studies and life science. Model-based approaches to clustering rely on mixture models, where each mixture component corresponds to the kernel…

Methodology · Statistics 2026-01-22 Laura Ferrini , Federico Castelletti

Identification of causal genes and pathways is a critical step for understanding the genetic underpinnings of rare diseases. We propose novel approaches to gene prioritization and pathway identification using DNA language model, graph…

Quantitative Methods · Quantitative Biology 2024-11-12 Ali Saadat , Jacques Fellay

The integration of knowledge graphs and graph machine learning (GML) in genomic data analysis offers several opportunities for understanding complex genetic relationships, especially at the RNA level. We present a comprehensive approach for…

Artificial Intelligence · Computer Science 2024-08-06 Shivika Prasanna , Ajay Kumar , Deepthi Rao , Eduardo Simoes , Praveen Rao