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Background: Selecting feature genes to predict phenotypes is one of the typical tasks in analyzing genomics data. Though many general-purpose algorithms were developed for prediction, dealing with highly correlated genes in the prediction…

Applications · Statistics 2022-04-11 Li Xing , Songwan Joun , Kurt Mackay , Mary Lesperance , Xuekui Zhang

The preservation of soil health is a critical challenge in the 21st century due to its significant impact on agriculture, human health, and biodiversity. We provide the first deep investigation of the predictive potential of machine…

Machine Learning · Statistics 2024-02-20 Rosa Aghdam , Xudong Tang , Shan Shan , Richard Lankau , Claudia Solís-Lemus

Machine learning and deep learning have been celebrating many successes in the application to biological problems, especially in the domain of protein folding. Another equally complex and important question has received relatively little…

Machine Learning · Computer Science 2023-10-09 Lucie Bourguignon , Caroline Weis , Catherine R. Jutzeler , Michael Adamer

Quantification of heritability is a fundamental desideratum in genetics, which allows an assessment of the contribution of additive genetic variation to the variability of a trait of interest. The traditional computational approaches for…

Applications · Statistics 2023-05-03 The Tien Mai , John A Lees , Rebecca A Gladstone , Jukka Corander

Causal discovery, the task of inferring causal structure from data, has the potential to uncover mechanistic insights from biological experiments, especially those involving perturbations. However, causal discovery algorithms over larger…

Machine Learning · Computer Science 2025-04-01 Menghua Wu , Yujia Bao , Regina Barzilay , Tommi Jaakkola

Discovering all the genetic causes of a phenotype is an important goal in functional genomics. In this paper we combine an experimental design for multiple independent detections of the genetic causes of a phenotype, with a high-throughput…

Quantitative Methods · Quantitative Biology 2014-03-18 Marc Harper , Luisa Gronenberg , James Liao , Christopher Lee

Causal discovery in multi-omic datasets is crucial for understanding the bigger picture of gene regulatory mechanisms, but remains challenging due to high dimensionality, differentiation of direct from indirect relationships, and hidden…

Genomics · Quantitative Biology 2025-05-23 Stephen Asiedu , David Watson

Hyperparameters play a critical role in machine learning. Hyperparameter tuning can make the difference between state-of-the-art and poor prediction performance for any algorithm, but it is particularly challenging for structure learning…

Machine Learning · Computer Science 2024-02-21 Damian Machlanski , Spyridon Samothrakis , Paul Clarke

Decoding the genome confers the capability to predict characteristics of the organism(phenotype) from DNA (genotype). We describe the present status and future prospects of genomic prediction of complex traits in humans. Some highly…

Genomics · Quantitative Biology 2021-01-18 Timothy G. Raben , Louis Lello , Erik Widen , Stephen D. H. Hsu

Classical machine learning techniques often struggle with overfitting and unreliable predictions when exposed to novel conditions. Introducing causality into the modelling process offers a promising way to mitigate these challenges by…

Computational Engineering, Finance, and Science · Computer Science 2025-05-28 David Zapata Gonzalez , Marcel Meyer , Oliver Mueller

Identifying measurable genetic indicators (or biomarkers) of a specific condition of a biological system is a key element of precision medicine. Indeed it allows to tailor diagnostic, prognostic and treatment choice to individual…

Machine Learning · Statistics 2016-12-16 Chloé-Agathe Azencott

Many machine learning models have been proposed to classify phenotypes from gene expression data. In addition to their good performance, these models can potentially provide some understanding of phenotypes by extracting explanations for…

Genomics · Quantitative Biology 2024-02-05 Myriam Bontonou , Anaïs Haget , Maria Boulougouri , Benjamin Audit , Pierre Borgnat , Jean-Michel Arbona

Life science is entering a new era of petabyte-level sequencing data. Converting such big data to biological insights represents a huge challenge for computational analysis. To this end, we developed DeepMetabolism, a biology-guided deep…

Genomics · Quantitative Biology 2017-05-10 Weihua Guo , You Xu , Xueyang Feng

The association of a given human phenotype to a genetic variant remains a critical challenge for biology. We present a novel system called PhenoLinker capable of associating a score to a phenotype-gene relationship by using heterogeneous…

Identifying disease genes from human genome is an important and fundamental problem in biomedical research. Despite many publications of machine learning methods applied to discover new disease genes, it still remains a challenge because of…

Quantitative Methods · Quantitative Biology 2017-05-23 Peng Yang

When we test a theory using data, it is common to focus on correctness: do the predictions of the theory match what we see in the data? But we also care about completeness: how much of the predictable variation in the data is captured by…

Machine Learning · Computer Science 2017-06-22 Jon Kleinberg , Annie Liang , Sendhil Mullainathan

Causal inference approaches in systems genetics exploit quantitative trait loci (QTL) genotypes to infer causal relationships among phenotypes. The genetic architecture of each phenotype may be complex, and poorly estimated genetic…

Applications · Statistics 2010-10-08 Elias Chaibub Neto , Mark P. Keller , Alan D. Attie , Brian S. Yandell

Applying machine learning to biological sequences - DNA, RNA and protein - has enormous potential to advance human health, environmental sustainability, and fundamental biological understanding. However, many existing machine learning…

Machine Learning · Statistics 2023-04-11 Alan Nawzad Amin , Eli Nathan Weinstein , Debora Susan Marks

Progress in probabilistic generative models has accelerated, developing richer models with neural architectures, implicit densities, and with scalable algorithms for their Bayesian inference. However, there has been limited progress in…

Machine Learning · Statistics 2017-10-31 Dustin Tran , David M. Blei

Leveraging the vast genetic diversity within microbiomes offers unparalleled insights into complex phenotypes, yet the task of accurately predicting and understanding such traits from genomic data remains challenging. We propose a framework…

Genomics · Quantitative Biology 2025-03-05 Zhufeng Li , Sandeep S Cranganore , Nicholas Youngblut , Niki Kilbertus
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