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Tumor recurrence, driven by the evolution of drug resistance is a major barrier to therapeutic success in cancer. Resistance is often caused by genetic alterations such as point mutation, which refers to the modification of a single genomic…

Populations and Evolution · Quantitative Biology 2023-08-23 Aaron Li , Danika Kibby , Jasmine Foo

In biomedical studies it is of substantial interest to develop risk prediction scores using high-dimensional data such as gene expression data for clinical endpoints that are subject to censoring. In the presence of well-established…

Applications · Statistics 2011-11-24 Qi Long , Matthias Chung , Carlos S. Moreno , Brent A. Johnson

Motivation: The discovery of relationships between gene expression measurements and phenotypic responses is hampered by both computational and statistical impediments. Conventional statistical methods are less than ideal because they either…

Methodology · Statistics 2019-07-16 Lei Ding , Daniel J. McDonald

The study of high-throughput genomic profiles from a pharmacogenomics viewpoint has provided unprecedented insights into the oncogenic features modulating drug response. A recent screening of ~1,000 cancer cell lines to a collection of…

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…

Machine Learning · Statistics 2018-12-21 Xi Chen , Jin Xie , Qingcong Yuan

A good feature representation is a determinant factor to achieve high performance for many machine learning algorithms in terms of classification. This is especially true for techniques that do not build complex internal representations of…

Neural and Evolutionary Computing · Computer Science 2019-08-22 Noëlie Cherrier , Jean-Philippe Poli , Maxime Defurne , Franck Sabatié

A predictive model makes outcome predictions based on some given features, i.e., it estimates the conditional probability of the outcome given a feature vector. In general, a predictive model cannot estimate the causal effect of a feature…

Machine Learning · Computer Science 2023-04-11 Jiuyong Li , Lin Liu , Ziqi Xu , Ha Xuan Tran , Thuc Duy Le , Jixue Liu

Directed evolution as a widely-used engineering strategy faces obstacles in finding desired mutants from the massive size of candidate modifications. While deep learning methods learn protein contexts to establish feasible searching space,…

Quantitative Methods · Quantitative Biology 2023-04-18 Bingxin Zhou , Outongyi Lv , Kai Yi , Xinye Xiong , Pan Tan , Liang Hong , Yu Guang Wang

To interpret the genetic profile present in a patient sample, it is necessary to know which mutations have important roles in the development of the corresponding cancer type. Named entity recognition is a core step in the text mining…

Computation and Language · Computer Science 2021-06-16 Jiarun Cao , Elke M van Veen , Niels Peek , Andrew G Renehan , Sophia Ananiadou

Cancer is a term that denotes a group of diseases caused by abnormal growth of cells that can spread in different parts of the body. According to the World Health Organization (WHO), cancer is the second major cause of death after…

Machine Learning · Computer Science 2023-01-31 Fadi Alharbi , Aleksandar Vakanski

We address challenges in variable selection with highly correlated data that are frequently present in finance, economics, but also in complex natural systems as e.g. weather. We develop a robustified version of the knockoff framework,…

Econometrics · Economics 2022-06-14 Konstantin Görgen , Abdolreza Nazemi , Melanie Schienle

In various biomedical studies, analysis often focuses on data magnitudes, particularly when algebraic signs are irrelevant or lost. For repeated measures studies involving magnitude outcomes, incorporating random effects is essential as…

Methodology · Statistics 2025-07-16 Wen Teng , Niall D. Ferguson , Ewan C. Goligher , Anna Heath

De novo generation of hit-like molecules is a challenging task in the drug discovery process. Most methods in previous studies learn the semantics and syntax of molecular structures by analyzing molecular graphs or simplified molecular…

Machine Learning · Computer Science 2025-04-18 Chen Li , Yoshihiro Yamanishi

Exploring how genetic sequences shape phenotypes is a fundamental challenge in biology and a key step toward scalable, hypothesis-driven experimentation. The task is complicated by the large modality gap between sequences and phenotypes, as…

Machine Learning · Computer Science 2025-11-18 Jingquan Yan , Yuwei Miao , Lei Yu , Yuzhi Guo , Xue Xiao , Lin Xu , Junzhou Huang

Multi-model inference covers a wide range of modern statistical applications such as variable selection, model confidence set, model averaging and variable importance. The performance of multi-model inference depends on the availability of…

Statistics Theory · Mathematics 2019-06-07 Ching-Wei Cheng , Guang Cheng

We train a neural network to predict distributional responses in gene expression following genetic perturbations. This is an essential task in early-stage drug discovery, where such responses can offer insights into gene function and inform…

Motivated by genome-wide association studies, we consider a standard linear model with one additional random effect in situations where many predictors have been collected on the same subjects and each predictor is analyzed separately.…

Applications · Statistics 2013-04-24 Matti Pirinen , Peter Donnelly , Chris C. A. Spencer

Many contemporary large-scale applications involve building interpretable models linking a large set of potential covariates to a response in a nonlinear fashion, such as when the response is binary. Although this modeling problem has been…

Methodology · Statistics 2017-12-13 Emmanuel Candes , Yingying Fan , Lucas Janson , Jinchi Lv

Combined inference for heterogeneous high-dimensional data is critical in modern biology, where clinical and various kinds of molecular data may be available from a single study. Classical genetic association studies regress a single…

Applications · Statistics 2017-03-22 Hélène Ruffieux , Anthony C. Davison , Jörg Hager , Irina Irincheeva

Identifying the genes and mutations that drive the emergence of tumors is a major step to improve understanding of cancer and identify new directions for disease diagnosis and treatment. Despite the large volume of genomics data, the…

Machine Learning · Computer Science 2022-04-05 Renan Andrades , Mariana Recamonde-Mendoza