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Background Precise prediction of cancer types is vital for cancer diagnosis and therapy. Important cancer marker genes can be inferred through predictive model. Several studies have attempted to build machine learning models for this task…

Genomics · Quantitative Biology 2019-06-20 Milad Mostavi , Yu-Chiao Chiu , Yufei Huang , Yidong Chen

Extracting genetic information from a full range of sequencing data is important for understanding diseases. We propose a novel method to effectively explore the landscape of genetic mutations and aggregate them to predict cancer type. We…

Genomics · Quantitative Biology 2018-10-10 Zexian Zeng , Andy Vo , Chengsheng Mao , Susan E Clare , Seema A Khan , Yuan Luo

We develop a feature allocation model for inference on genetic tumor variation using next-generation sequencing data. Specifically, we record single nucleotide variants (SNVs) based on short reads mapped to human reference genome and…

Applications · Statistics 2015-09-15 Juhee Lee , Peter Müller , Kamalakar Gulukota , Yuan Ji

Spatial variable genes (SVGs) reveal critical information about tissue architecture, cellular interactions, and disease microenvironments. As spatial transcriptomics (ST) technologies proliferate, accurately identifying SVGs across diverse…

Applications · Statistics 2025-10-21 Jiawen Chen , Jinwei Zhang , Dongshen Peng , Yutong Song , Aitong Ruan , Yun Li , Didong Li

Gene expression analysis is a critical method for cancer classification, enabling precise diagnoses through the identification of unique molecular signatures associated with various tumors. Identifying cancer-specific genes from gene…

Quantitative Methods · Quantitative Biology 2024-10-11 Farzana Tabassum , Sabrina Islam , Siana Rizwan , Masrur Sobhan , Tasnim Ahmed , Sabbir Ahmed , Tareque Mohmud Chowdhury

The DNA microarray technology has modernized the approach of biology research in such a way that scientists can now measure the expression levels of thousands of genes simultaneously in a single experiment. Gene expression profiles, which…

Computational Engineering, Finance, and Science · Computer Science 2011-09-07 G. Victo Sudha George , V. Cyril Raj

BACKGROUND: Breast cancer has emerged as one of the most prevalent cancers among women leading to a high mortality rate. Due to the heterogeneous nature of breast cancer, there is a need to identify differentially expressed genes associated…

Machine Learning · Computer Science 2021-11-30 Sheetal Rajpal , Ankit Rajpal , Manoj Agarwal , Naveen Kumar

Discovery of diagnostic and prognostic molecular markers is important and actively pursued the research field in cancer research. For complex diseases, this process is often performed using Machine Learning. The current study compares two…

Genomics · Quantitative Biology 2020-04-30 Aneta Polewko-Klim , Witold R. Rudnicki

While we once thought of cancer as single monolithic diseases affecting a specific organ site, we now understand that there are many subtypes of cancer defined by unique patterns of gene mutations. These gene mutational data, which can be…

Quantitative Methods · Quantitative Biology 2017-03-07 Jipeng Qiang , Wei Ding , John Quackenbush , Ping Chen

It is increasingly common clinically for cancer specimens to be examined using techniques that identify somatic mutations. In principle these mutational profiles can be used to diagnose the tissue of origin, a critical task for the 3-5% of…

Methodology · Statistics 2020-07-14 Saptarshi Chakraborty , Colin B. Begg , Ronglai Shen

An early detection of different tumor subtypes is crucial for an effective guidance to personalized therapy. While much efforts focus on decoding the sequence of DNA basis to detect the genetic mutations related to cancer, it is becoming…

The discovery of important biomarkers is a significant step towards understanding the molecular mechanisms of carcinogenesis; enabling accurate diagnosis for, and prognosis of, a certain cancer type. Before recommending any diagnosis,…

Quantitative Methods · Quantitative Biology 2019-09-11 Md. Rezaul Karim , Michael Cochez , Oya Beyan , Stefan Decker , Christoph Lange

According to the National Cancer Institute, there were 9.5 million cancer-related deaths in 2018. A challenge in improving treatment is resistance in genetically unstable cells. The purpose of this study is to evaluate unsupervised machine…

Genomics · Quantitative Biology 2021-08-12 Anastasia Dunca , Frederick R. Adler

We propose a new method for cancer subtype classification from histopathological images, which can automatically detect tumor-specific features in a given whole slide image (WSI). The cancer subtype should be classified by referring to a…

Computer Vision and Pattern Recognition · Computer Science 2020-04-03 Noriaki Hashimoto , Daisuke Fukushima , Ryoichi Koga , Yusuke Takagi , Kaho Ko , Kei Kohno , Masato Nakaguro , Shigeo Nakamura , Hidekata Hontani , Ichiro Takeuchi

Convolutional Neural Networks have shown promising effectiveness in identifying different types of cancer from radiographs. However, the opaque nature of CNNs makes it difficult to fully understand the way they operate, limiting their…

Image and Video Processing · Electrical Eng. & Systems 2026-03-16 Michael Okonoda , Eder Martinez , Abhilekha Dalal , Lior Shamir

After the completion of human genome sequence was anounced, it is evident that interpretation of DNA sequences is an immediate task to work on. For understanding their signals, improvement of present sequence analysis tools and developing…

Computational Complexity · Computer Science 2007-05-23 Gene Kim , MyungHo Kim

Individual cancer cells carry a bewildering number of distinct genomic alterations i.e., copy number variations and mutations, making it a challenge to uncover genomic-driven mechanisms governing tumorigenesis. Here we performed…

Unsupervised learning on high-dimensional RNA-seq data can reveal molecular subtypes beyond standard labels. We combine an autoencoder-based representation with clustering and stability analysis to search for rare but reproducible genomic…

Machine Learning · Computer Science 2025-11-18 Alaa Mezghiche

Many joint-SNVs (single-nucleotide variants) analysis methods were proposed to tackle the "missing heritability" problem, which emphasizes that the joint genetic variants can explain more heritability of traits and diseases. However, there…

Methodology · Statistics 2017-08-01 Jin-Xiong Lv , Shikui Tu , Lei Xu

The distribution and appearance of nuclei are essential markers for the diagnosis and study of cancer. Despite the importance of nuclear morphology, there is a lack of large scale, accurate, publicly accessible nucleus segmentation data. To…

Image and Video Processing · Electrical Eng. & Systems 2020-12-02 Le Hou , Rajarsi Gupta , John S. Van Arnam , Yuwei Zhang , Kaustubh Sivalenka , Dimitris Samaras , Tahsin M. Kurc , Joel H. Saltz
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