Machine learning in genetics and genomics
By Maxwell W. Libbrecht, William Stafford Noble. Nature reviews genetics, 2015
1,776 citations recorded by the source corpus.
The field of machine learning, which aims to develop computer algorithms that improve with experience, holds promise to enable computers to assist humans in the analysis of large, complex data sets. Here, we provide an overview of machine learning applications for the analysis of genome sequencing data sets, including the annotation of sequence elements and epigenetic, proteomic or metabolomic data. We present considerations and recurrent challenges in the application of supervised, semi-supervised and unsupervised machine learning methods, as well as of generative and discriminative modelling approaches. We provide general guidelines to assist in the selection of these machine learning methods and their practical application for the analysis of genetic and genomic data sets.
Subfields: Molecular Biology
View Paper: https://www.semanticscholar.org/paper/9873d43696165b50fab955d27b9dde838c0a0152
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Citations in the corpus
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- Deep learning in cancer diagnosis, prognosis and treatment selection (2021, methodology): “The use of ML algorithms to automate these tasks and aid cancer detection (identifying the presence of cancer) and diagnosis (characterising the cancer) has become increasingly prevalent [2, 3].”
- Machine Learning in Enzyme Engineering (2019, background): “Recent advances in the analysis of human genetic variation data in biomedicine and healthcare further increase the appeal of this approach for the design of beneficial mutations (12-14).”
- Converging blockchain and next-generation artificial intelligence technologies to decentralize and accelerate biomedical research and healthcare (2015, methodology): “Although machine learning methods are now routinely used in various research fields, including biomarker development and drug discovery [28–31], the machine learning techniques utilizing the Deep Neural Networks (DNNs) are able to capture high-level dependencies in the healthcare data [32].”
- Towards Explainable Artificial Intelligence (2019, background): “In the case of scientific data, they can be unknown associations between genes and diseases [51], chemical compounds and material properties [68] or brain activations and cognitive states [49].”
- iFeature: a Python package and web server for features extraction and selection from protein and peptide sequences (2018, methodology): “In recent years, machine learning techniques have been increasingly used as a powerful means to predict structural and functional properties of proteins and to assist in the annotation of genomic and proteomic data (Larranaga et al., 2006; Libbrecht and Noble, 2015).”
- Machine Learning for Predicting Epileptic Seizures Using EEG Signals: A Review (2020, background): “Biomedical fields with large image datasets—such as radiology [47], cardiology [48], pathology [49], and genomics [50]—are using various ML”
- A Survey on Smart Agriculture: Development Modes, Technologies, and Security and Privacy Challenges (2021, background): “, data annotation, data association and data storage by knowledge graph technology); • Massive image data analysis [85], [86] (e.”
- Machine learning and computer vision approaches for phenotypic profiling (2017, background): “In contrast, classification is a form of supervised learning in which models are trained on labeled datasets to generate predictions on unseen data points (Libbrecht and Noble, 2015).”