arrow
Return

Unsupervised ensemble learning for genome sequencing

delete2022-09-01
delete2
delete
OA
AI
A
Alba Pagés-Zamora *
I
Idoia Ochoa
DOI:10.1016/j.patcog.2022.108721delete
deleteOriginal
deleteShare
deleteSave
View PDF
Abstract

Abstract

En 中文
Unsupervised ensemble learning refers to methods devised for a particular task that combine data pro-vided by decision learners taking into account their reliability, which is usually inferred from the data. Here, the variant calling step of the next generation sequencing technologies is formulated as an unsuper-vised ensemble classification problem. A variant calling algorithm based on the expectation-maximization algorithm is further proposed that estimates the maximum-a-posteriori decision among a number of classes larger than the number of different labels provided by the learners. Experimental results with real human DNA sequencing data show that the proposed algorithm is competitive compared to state-of -the-art variant callers as GATK, HTSLIB, and Platypus.(c) 2022 The Author(s). Published by Elsevier Ltd.This is an open access article under the CC BY-NC-ND license ( http://creativecommons.org/licenses/by-nc-nd/4.0/ )
Keywords:
Expectation maximization algorithm
Variant calling
Genome sequencing
Unsupervised multi-class ensemble
classifier
GATK
AI Summary

AI Summary

Key information extracted from the uploaded paper, including a brief overview, abstract, background, key highlights, visual analysis, and future outlook.

Journal

Pattern Recognition cover
Pattern Recognition
IF:
7.6
Papers:
1.3W
Citations:
4.5W

Organization

U
University of Navarra
Scholars:
1.2W
Papers: 8.9K
Citations: 24
U
universitat politecnica de catalunya
Scholars:
1.9W
Papers: 1.6W
Citations: 17
Cited Papers

Cited Papers

Empirical distribution of k-word matches in biological sequences
err2009-04-01
err21
errOAAI
errForet, Sylvain; Wilson, Susan R.; Burden, Conrad J.
errShare
errSave
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
err2010-07-19
err2.1W
errOAAI
errMcKenna, Aaron; Hanna, Matthew; Banks, Eric; Sivachenko, Andrey; Cibulskis, Kristian; Kernytsky, Andrew; Garimella, Kiran; Altshuler, David; Gabriel, Stacey; Daly, Mark; DePristo, Mark A.
errShare
errSave
Picking ChIP-seq peak detectors for analyzing chromatin modification experiments
err2012-02-14
err65
errOAAI
errMicsinai, Mariann; Parisi, Fabio; Strino, Francesco; Asp, Patrik; Dynlacht, Brian D.; Kluger, Yuval
errShare
errSave
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
err2005-01-16
err525
PREAI
errJonathan, C; Pertsemlidis, A; Kotowski, IK; Graham, R; Christine, KG; Garcia, CK; Hobbs, HH
errShare
errSave
Ensemble learning for data stream analysis: A survey
err2017-09-01
err672
errOAAI
errKrawczyk, Bartosz; Minku, Leandro L.; Gama, Joao; Stefanowski, Jerzy; Wozniak, Michal
errShare
errSave
A framework for variation discovery and genotyping using next-generation DNA sequencing data
err2011-04-10
err9.1K
errOAAI
errDePristo, Mark A.; Banks, Eric; Poplin, Ryan; Garimella, Kiran V.; Maguire, Jared R.; Hartl, Christopher; Philippakis, Anthony A.; del Angel, Guillermo; Rivas, Manuel A.; Hanna, Matt; McKenna, Aaron; Fennell, Tim J.; Kernytsky, Andrew M.; Sivachenko, Andrey Y.; Cibulskis, Kristian; Gabriel, Stacey B.; Altshuler, David; Daly, Mark J.
errShare
errSave
Thailand Raw Water Quality Dataset Analysis and Evaluation
errData
IF0
err2023-09-04
err0
errOAAI
errJaturapith Krohkaew; Pongpon Nilaphruek; Niti Witthayawiroj; Sakchai Uapipatanakul; Yamin Thwe; Padma Nyoman Crisnapati
errShare
errSave
Unsupervised online clustering and detection algorithms using crowdsourced data for malaria diagnosis
err2019-02-01
err11
errOAAI
errPages-Zamora, Alba; Cabrera-Bean, Margarita; Diaz-Vilor, Carles
errShare
errSave
researcher View more