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Luis G. Leal

dblp:258/2423 · DBLP profile ↗
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1ranked-venue papers
1as first author
0since 2021 · last 2019
—ORCID · unresolved

Domains — the database's venue-derived domains; a paper can count in several

Applied, interdisciplinary, general and emerging computing · 1 · 1 first-author

Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.

Interdisciplinary, comprehensive, and emerging computing
1 paper
Bioinformatics and computational biology · 93% Medical and health informatics · 7%

Topics — the 5 heaviest of 6, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › network bioinformatics › biological network analysis
gene network analysis
0.412019
Identification of disease-associated loci using machine learning for genotype and network data integration · Bioinform. 2019
Bioinformatics and computational biology › genomics
genome-wide association study
0.412019
Identification of disease-associated loci using machine learning for genotype and network data integration · Bioinform. 2019
Bioinformatics and computational biology › biological network
network biology
0.412019
Identification of disease-associated loci using machine learning for genotype and network data integration · Bioinform. 2019
Bioinformatics and computational biology › multi-omics data integration
omics data integration
0.412019
Identification of disease-associated loci using machine learning for genotype and network data integration · Bioinform. 2019
Medical and health informatics
precision medicine
0.112019
Identification of disease-associated loci using machine learning for genotype and network data integration · Bioinform. 2019

Methods — techniques the papers use, named apart from their topics

non-negative matrix tri-factorization · 0.4clustering · 0.4
YearPublicationVenuePosition
2019 Identification of disease-associated loci using machine learning for genotype and network data integration
abstract
MOTIVATION: Integration of different omics data could markedly help to identify biological signatures, understand the missing heritability of complex diseases and ultimately achieve personalized medicine. Standard regression models used in Genome-Wide Association Studies (GWAS) identify loci with a strong effect size, whereas GWAS meta-analyses are often needed to capture weak loci contributing to the missing heritability. Development of novel machine learning algorithms for merging genotype data with other omics data is highly needed as it could enhance the prioritization of weak loci. RESULTS: We developed cNMTF (corrected non-negative matrix tri-factorization), an integrative algorithm based on clustering techniques of biological data. This method assesses the inter-relatedness between genotypes, phenotypes, the damaging effect of the variants and gene networks in order to identify loci-trait associations. cNMTF was used to prioritize genes associated with lipid traits in two population cohorts. We replicated 129 genes reported in GWAS world-wide and provided evidence that supports 85% of our findings (226 out of 265 genes), including recent associations in literature (NLGN1), regulators of lipid metabolism (DAB1) and pleiotropic genes for lipid traits (CARM1). Moreover, cNMTF performed efficiently against strong population structures by accounting for the individuals' ancestry. As the method is flexible in the incorporation of diverse omics data sources, it can be easily adapted to the user's research needs. AVAILABILITY AND IMPLEMENTATION: An R package (cnmtf) is available at https://lgl15.github.io/cnmtf_web/index.html. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Luis G. Leal, Alessia David, Marjo-Riitta Järvelin, Sylvain Sebert, Minna Männikkö, Ville Karhunen, Eleanor Seaby, Clive J. Hoggart, Michael J. E. Sternberg
Bioinform.1