Literature DB >> 25948244

Machine learning applications in genetics and genomics.

Maxwell W Libbrecht1, William Stafford Noble2.   

Abstract

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.

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Mesh:

Year:  2015        PMID: 25948244      PMCID: PMC5204302          DOI: 10.1038/nrg3920

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


  44 in total

1.  Learning gene functional classifications from multiple data types.

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Journal:  J Comput Biol       Date:  2002       Impact factor: 1.479

2.  Epigenetic priors for identifying active transcription factor binding sites.

Authors:  Gabriel Cuellar-Partida; Fabian A Buske; Robert C McLeay; Tom Whitington; William Stafford Noble; Timothy L Bailey
Journal:  Bioinformatics       Date:  2011-11-08       Impact factor: 6.937

Review 3.  Probabilistic models and machine learning in structural bioinformatics.

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4.  Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome.

Authors:  Nathaniel D Heintzman; Rhona K Stuart; Gary Hon; Yutao Fu; Christina W Ching; R David Hawkins; Leah O Barrera; Sara Van Calcar; Chunxu Qu; Keith A Ching; Wei Wang; Zhiping Weng; Roland D Green; Gregory E Crawford; Bing Ren
Journal:  Nat Genet       Date:  2007-02-04       Impact factor: 38.330

5.  An ensemble model of competitive multi-factor binding of the genome.

Authors:  Todd Wasson; Alexander J Hartemink
Journal:  Genome Res       Date:  2009-08-31       Impact factor: 9.043

6.  Histone modification levels are predictive for gene expression.

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Journal:  Proc Natl Acad Sci U S A       Date:  2010-02-01       Impact factor: 11.205

7.  Multiclass cancer diagnosis using tumor gene expression signatures.

Authors:  S Ramaswamy; P Tamayo; R Rifkin; S Mukherjee; C H Yeang; M Angelo; C Ladd; M Reich; E Latulippe; J P Mesirov; T Poggio; W Gerald; M Loda; E S Lander; T R Golub
Journal:  Proc Natl Acad Sci U S A       Date:  2001-12-11       Impact factor: 11.205

8.  Using rule-based machine learning for candidate disease gene prioritization and sample classification of cancer gene expression data.

Authors:  Enrico Glaab; Jaume Bacardit; Jonathan M Garibaldi; Natalio Krasnogor
Journal:  PLoS One       Date:  2012-07-11       Impact factor: 3.240

9.  A critical assessment of Mus musculus gene function prediction using integrated genomic evidence.

Authors:  Lourdes Peña-Castillo; Murat Tasan; Chad L Myers; Hyunju Lee; Trupti Joshi; Chao Zhang; Yuanfang Guan; Michele Leone; Andrea Pagnani; Wan Kyu Kim; Chase Krumpelman; Weidong Tian; Guillaume Obozinski; Yanjun Qi; Sara Mostafavi; Guan Ning Lin; Gabriel F Berriz; Francis D Gibbons; Gert Lanckriet; Jian Qiu; Charles Grant; Zafer Barutcuoglu; David P Hill; David Warde-Farley; Chris Grouios; Debajyoti Ray; Judith A Blake; Minghua Deng; Michael I Jordan; William S Noble; Quaid Morris; Judith Klein-Seetharaman; Ziv Bar-Joseph; Ting Chen; Fengzhu Sun; Olga G Troyanskaya; Edward M Marcotte; Dong Xu; Timothy R Hughes; Frederick P Roth
Journal:  Genome Biol       Date:  2008-06-27       Impact factor: 13.583

Review 10.  Machine learning and genome annotation: a match meant to be?

Authors:  Kevin Y Yip; Chao Cheng; Mark Gerstein
Journal:  Genome Biol       Date:  2013-05-29       Impact factor: 13.583

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  335 in total

1.  Use of big data in drug development for precision medicine.

Authors:  Rosa S Kim; Nicolas Goossens; Yujin Hoshida
Journal:  Expert Rev Precis Med Drug Dev       Date:  2016-04-28

2.  Regulatory element-based prediction identifies new susceptibility regulatory variants for osteoporosis.

Authors:  Shi Yao; Yan Guo; Shan-Shan Dong; Ruo-Han Hao; Xiao-Feng Chen; Yi-Xiao Chen; Jia-Bin Chen; Qing Tian; Hong-Wen Deng; Tie-Lin Yang
Journal:  Hum Genet       Date:  2017-06-20       Impact factor: 4.132

3.  The Aristotle Classifier: Using the Whole Glycomic Profile To Indicate a Disease State.

Authors:  David Hua; Milani Wijeweera Patabandige; Eden P Go; Heather Desaire
Journal:  Anal Chem       Date:  2019-08-13       Impact factor: 6.986

4.  Linking Gaussian process regression with data-driven manifold embeddings for nonlinear data fusion.

Authors:  Seungjoon Lee; Felix Dietrich; George E Karniadakis; Ioannis G Kevrekidis
Journal:  Interface Focus       Date:  2019-04-19       Impact factor: 3.906

Review 5.  Brief Survey on Machine Learning in Epistasis.

Authors:  Davide Chicco; Trent Faultless
Journal:  Methods Mol Biol       Date:  2021

6.  Population inference based on mitochondrial DNA control region data by the nearest neighbors algorithm.

Authors:  Fu-Chi Yang; Bill Tseng; Chun-Yen Lin; Yu-Jen Yu; Adrian Linacre; James Chun-I Lee
Journal:  Int J Legal Med       Date:  2021-02-14       Impact factor: 2.686

7.  Genetic Epidemiology of Complex Phenotypes.

Authors:  Darren D O'Rielly; Proton Rahman
Journal:  Methods Mol Biol       Date:  2021

8.  DeepCOMBI: explainable artificial intelligence for the analysis and discovery in genome-wide association studies.

Authors:  Bettina Mieth; Alexandre Rozier; Juan Antonio Rodriguez; Marina M C Höhne; Nico Görnitz; Klaus-Robert Müller
Journal:  NAR Genom Bioinform       Date:  2021-07-20

9.  Quantifying between-cohort and between-sex genetic heterogeneity in major depressive disorder.

Authors:  Maciej Trzaskowski; Divya Mehta; Wouter J Peyrot; David Hawkes; Daniel Davies; David M Howard; Kathryn E Kemper; Julia Sidorenko; Robert Maier; Stephan Ripke; Manuel Mattheisen; Bernhard T Baune; Hans J Grabe; Andrew C Heath; Lisa Jones; Ian Jones; Pamela A F Madden; Andrew M McIntosh; Gerome Breen; Cathryn M Lewis; Anders D Børglum; Patrick F Sullivan; Nicholas G Martin; Kenneth S Kendler; Douglas F Levinson; Naomi R Wray
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2019-02-01       Impact factor: 3.568

10.  FFPred 3: feature-based function prediction for all Gene Ontology domains.

Authors:  Domenico Cozzetto; Federico Minneci; Hannah Currant; David T Jones
Journal:  Sci Rep       Date:  2016-08-26       Impact factor: 4.379

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