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In recent years, cancer genome sequencing and other high-throughput studies of cancer genomes have generated many notable discoveries. In this review, Novel genomic alteration mechanisms, such as chromothripsis (chromosomal crisis) and…

Genomics · Quantitative Biology 2014-09-12 Edwin Wang

Cancers are mainly caused by somatic genomic alterations (SGAs) that perturb cellular signaling systems and eventually activate oncogenic processes. Therefore, understanding the functional impact of SGAs is a fundamental task in cancer…

Molecular Networks · Quantitative Biology 2019-09-24 Yifeng Tao , Chunhui Cai , William W. Cohen , Xinghua Lu

Although somatic mutations are the main contributor to cancer, underlying germline alterations may increase the risk of cancer, mold the somatic alteration landscape and cooperate with acquired mutations to promote the tumor onset and/or…

Quantitative Methods · Quantitative Biology 2016-11-01 Jorge Fernandez-de-Cossio , Yasser Perera

Predicting whether a chemical structure shares a desired biological effect can have a significant impact for in-silico compound screening in early drug discovery. In this study, we developed a deep learning model where compound structures…

Quantitative Methods · Quantitative Biology 2020-04-03 C. Fotis , N. Meimetis , A. Sardis , L. G. Alexopoulos

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

The vast amount of sequencing data presently available allow the scientific community to explore a range of genetic variables that may drive and progress cancer. A myriad of predictive tools has been proposed, allowing researchers and…

Genomics · Quantitative Biology 2023-03-31 Mona Nourbakhsh , Kristine Degn , Astrid Saksager , Matteo Tiberti , Elena Papaleo

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

Cancer genomes exhibit a large number of different alterations that affect many genes in a diverse manner. It is widely believed that these alterations follow combinatorial patterns that have a strong connection with the underlying…

Machine Learning · Computer Science 2016-01-26 Jack P. Hou , Amin Emad , Gregory J. Puleo , Jian Ma , Olgica Milenkovic

Cancer is a complex disease driven by dynamic regulatory shifts that cannot be fully captured by individual molecular profiling. We employ a data-driven approach to construct a coarse-grained dynamic network model based on hallmark…

Quantitative Methods · Quantitative Biology 2025-02-28 Jiahe Wang , Yan Wu , Yuke Hou , Yang Li , Dachuan Xu , Changjing Zhuge , Yue Han

Motivation: Human cancer is caused by the accumulation of somatic mutations in tumor suppressors and oncogenes within the genome. In the case of oncogenes, recent theory suggests that there are only a few key "driver" mutations responsible…

Genomics · Quantitative Biology 2013-07-16 Gregory Ryslik , Yuwei Cheng , Kei-Hoi Cheung , Yorgo Modis , Hongyu Zhao

Cancer cell lines have frequently been used to link drug sensitivity and resistance with genomic profiles. To capture genomic complexity in cancer, the Cancer Genome Project (CGP) (Garnett et al., 2012) screened 639 human tumor cell lines…

Applications · Statistics 2017-02-09 Hongmei Liu , J. Sunil Rao

In cancer research, high-throughput profiling has been extensively conducted. In recent studies, the integrative analysis of data on multiple cancer patient groups/subgroups has been conducted. Such analysis has the potential to reveal the…

Methodology · Statistics 2022-12-01 Yifan Sun , Zhengyang Sun , Yu Jiang , Yang Li , Shuangge Ma

Identifying the mutations that drive cancer growth is key in clinical decision making and precision oncology. As driver mutations confer selective advantage and thus have an increased likelihood of occurrence, frequency-based statistical…

Genomics · Quantitative Biology 2021-05-04 Adnan Akbar , Andrey Solovyev , John W Cassidy , Nirmesh Patel , Harry W Clifford

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

MicroRNAs (miRNAs) are small endogenous regulatory molecules that modulate gene expression post-transcriptionally. Although differential expression of miRNAs have been implicated in many diseases (including cancers), the underlying…

Genomics · Quantitative Biology 2018-01-09 Gary Wilk , Rosemary Braun

Chromosome analysis is vital for diagnosing genetic disorders and guiding cancer therapy decisions through the identification of somatic clonal aberrations. However, developing an AI model are hindered by the overwhelming complexity and…

Quantitative Methods · Quantitative Biology 2025-05-23 Changchun Yang , Weiqian Dai , Yilan Zhang , Siyuan Chen , Jingdong Hu , Junkai Su , Yuxuan Chen , Ao Xu , Na Li , Xin Gao , Yongguo Yu

BRCA genes, comprising BRCA1 and BRCA2 play indispensable roles in preserving genomic stability and facilitating DNA repair mechanisms. The presence of germline mutations in these genes has been associated with increased susceptibility to…

Genomics · Quantitative Biology 2023-09-04 Woowon Jang , Shiwoo Koak , Jiwon Im , Utku Ozbulak , Joris Vankerschaver

Determining the primary site of origin for metastatic tumors is one of the open problems in cancer care because the efficacy of treatment often depends on the cancer tissue of origin. Classification methods that can leverage tumor genomic…

Genomics · Quantitative Biology 2019-11-19 Alena Harley

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

Genomic aberrations, such as somatic copy number alterations, are frequently observed in tumor tissue. Recurrent aberrations, occurring in the same region across multiple subjects, are of interest because they may highlight genes associated…

Statistics Theory · Mathematics 2014-03-11 Vonn Walter , Fred A. Wright , Andrew B. Nobel
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