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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…

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…

统计方法学 · 统计学 2020-07-14 Saptarshi Chakraborty , Colin B. Begg , Ronglai Shen

A central goal in cancer genomics is to identify the somatic alterations that underpin tumor initiation and progression. This task is challenging as the mutational profiles of cancer genomes exhibit vast heterogeneity, with many alterations…

基因组学 · 定量生物学 2017-04-28 Borislav H. Hristov , Mona Singh

Identifying genes underlying cancer development is critical to cancer biology and has important implications across prevention, diagnosis and treatment. Cancer sequencing studies aim at discovering genes with high frequencies of somatic…

应用统计 · 统计学 2013-12-09 Jie Ding , Lorenzo Trippa , Xiaogang Zhong , Giovanni Parmigiani

Statistical inference on the cancer-site specificities of collective ultra-rare whole genome somatic mutations is an open problem. Traditional statistical methods cannot handle whole-genome mutation data due to their…

统计方法学 · 统计学 2023-01-02 Saptarshi Chakraborty , Zoe Guan , Colin B. Begg , Ronglai Shen

Cancer is a highly heterogeneous disease with significant variability in molecular features and clinical outcomes, making diagnosis and treatment challenging. In recent years, high-throughput omic technologies have facilitated the discovery…

定量方法 · 定量生物学 2024-08-19 Saiful Islam , Md. Nahid Hasan

In cancer research, the comparison of gene expression or DNA methylation networks inferred from healthy controls and patients can lead to the discovery of biological pathways associated to the disease. As a cancer progresses, its signalling…

统计方法学 · 统计学 2015-06-17 Da Ruan , Alastair Young , Giovanni Montana

Prognostic genes have been well studied within each type of cancer. However, investigations of the similarities and differences across cancer types are rare. In view of the optimal course of treatment, the classification of cancers into…

应用统计 · 统计学 2019-03-20 Arturo Chavez , Dimitris Koutentakis , Youzhi Liang , Sonali Tripathy , Jie Yun

Network-based analyses of high-throughput genomics data provide a holistic, systems-level understanding of various biological mechanisms for a common population. However, when estimating multiple networks across heterogeneous…

Identifying subgroups and properties of cancer biopsy samples is a crucial step towards obtaining precise diagnoses and being able to perform personalized treatment of cancer patients. Recent data collections provide a comprehensive…

基因组学 · 定量生物学 2021-04-23 Stefan Groha , Caroline Weis , Alexander Gusev , Bastian Rieck

The pathogenesis of cancer in human is still poorly understood. With the rapid development of high-throughput sequencing technologies, huge volumes of cancer genomics data have been generated. Deciphering those data poses great…

基因组学 · 定量生物学 2016-04-06 Junhua Zhang , Shihua Zhang

We make use of ideas from the theory of complex networks to implement a machine learning classification of human DNA methylation data, that carry signatures of cancer development. The data were obtained from patients with various kinds of…

基因组学 · 定量生物学 2017-02-22 Alexander Karsakov , Thomas Bartlett , Iosif Meyerov , Alexey Zaikin , Mikhail Ivanchenko

Next-generation sequencing technologies allow the measurement of somatic mutations in a large number of patients from the same cancer type. One of the main goals in analyzing these mutations is the identification of mutations associated…

定量方法 · 定量生物学 2016-09-13 Tommy Hansen , Fabio Vandin

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…

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…

其他定量生物学 · 定量生物学 2026-01-28 Manish Kumar

Graphical models are commonly used to discover associations within gene or protein networks for complex diseases such as cancer. Most existing methods estimate a single graph for a population, while in many cases, researchers are interested…

Precision medicine aims for personalized prognosis and therapeutics by utilizing recent genome-scale high-throughput profiling techniques, including next-generation sequencing (NGS). However, translating NGS data faces several challenges.…

With the increased affordability and availability of whole-genome sequencing, large-scale and high-throughput gene expression is widely used to characterize diseases, including cancers. However, establishing specificity in cancer diagnosis…

机器学习 · 统计学 2018-12-21 Xi Chen , Jin Xie , Qingcong Yuan

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…

基因组学 · 定量生物学 2020-01-20 Borislav H. Hristov , Bernard Chazelle , Mona Singh

Cancer and its subtypes constitute approximately 30% of all causes of death globally and display a wide range of heterogeneity in terms of clinical and molecular responses to therapy. Molecular subtyping has enabled the use of precision…

定量方法 · 定量生物学 2024-07-11 Anwar Khan , Boreom Lee
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