Análisis Genómico y Reconstrucción Metabólica de la Variedad Colombia de Solanum tuberosum L. Grupo Phureja

dc.contributor.advisorPinzón Velasco, Andrés Mauricio
dc.contributor.advisorBecerra Galindo, Luis Francisco
dc.contributor.authorQuintero Lopez, Oscar Alexis
dc.contributor.cvlacQuintero López, Oscar Alexis [0000186886]
dc.contributor.googlescholarPinzón Velasco, Andrés Mauricio [5uV4sscAAAAJ]
dc.contributor.orcidQuintero López, Oscar Alexis [0000000189266400]
dc.contributor.researchgatePinzón Velasco, Andrés Mauricio [Andres-Pinzon-13]
dc.contributor.researchgroupGrupo de Investigación en Bioinformática y Biología de Sistemas
dc.contributor.researchgroupBiología Molecular - BIOMOLc
dc.date.accessioned2026-02-16T16:11:40Z
dc.date.available2026-02-16T16:11:40Z
dc.date.issued2025
dc.descriptionIlustraciones, diagramas, gráficosspa
dc.description.abstractEl cultivar 'Criolla Colombia' de Solanum tuberosum L. Grupo Phureja constituye un recurso fitogenético estratégico para Colombia, con aproximadamente 18,000 hectáreas cultivadas anualmente que representan el 15% de la producción nacional de papa criolla. Sin embargo, la ausencia de un genoma de referencia bien ensamblado y anotado, así como de un modelo metabólico a escala genómica específico para este cultivar diploide, limita significativamente la comprensión mecanística de los determinantes moleculares de su fenotipo y restringe el desarrollo de programas de mejoramiento genético eficientes. Se realizó el ensamblaje de novo del genoma completo del cultivar 'Criolla Colombia' utilizando tecnología PacBio HiFi (15.2 Gb de datos, lecturas promedio de 8 kb), seguido de corrección de errores con Inspector v1.2, control de calidad con BUSCO y BlobToolKit, y andamiaje cromosómico con RagTag. Se ejecutó la predicción estructural de genes con AUGUSTUS y anotación funcional con eggNOG-mapper, alcanzando cobertura del 79.4% de las proteínas predichas con asignaciones KEGG, COG y números EC. La reconstrucción del modelo metabólico a escala genómica (GEM) se implementó mediante COBRApy y ModelSEEDpy, con curación iterativa, enriquecimiento vía APIs de KEGG, validación con MEMOTE y pruebas de viabilidad mediante análisis de balance de flujos (FBA). Se obtuvo un ensamblaje diploide de alta calidad con dos haplotipos diferenciados (1.66 Gb, heterocigosidad 1.36%), completitud BUSCO superior al 95% en todos los niveles taxonómicos, contaminación mínima (<4.2%), y especificidad taxonómica del 96% en Solanaceae. La anotación funcional identificó 39,127 genes codificantes de proteínas con alta sintenia cromosómica respecto al genoma de referencia DM1-3 516 R44 v6.1. Se desarrolló el primer modelo metabólico específico del cultivar 'Criolla Colombia', multicompartimental y estequiométricamente consistente, con 1,063 reacciones bioquímicas, 901 metabolitos únicos y viabilidad computacional confirmada mediante FBA (valor objetivo de biomasa: 361.32). Esta investigación generó el primer genoma completo y modelo metabólico específico del cultivar 'Criolla Colombia', llenando una brecha crítica en el conocimiento de la papa criolla diploide. La integración genómica-metabólica lograda establece un marco metodológico reproducible para la caracterización funcional de cultivos andinos y demuestra la factibilidad de generar recursos de calidad internacional para genotipos locales. Los recursos constituyen herramientas fundamentales hacia un mejoramiento genético asistido por modelos, con potencial de impacto directo en la optimización de la papa criolla y la seguridad alimentaria regional. (Texto tomado de la fuente)spa
dc.description.degreelevelMaestría
dc.description.degreenameMagíster en Bioinformática
dc.description.methodsMetodología computacional y experimental en cuatro fases secuenciales: (1) Ensamblaje genómico de novo a partir de lecturas PacBio HiFi con Hifiasm, corrección de errores con Inspector, control de calidad con BUSCO y BlobToolKit, y andamiaje cromosómico guiado por referencia con RagTag usando el genoma DM1-3 516 R44 v6.1; (2) Anotación estructural y funcional del genoma mediante predicción de genes con AUGUSTUS y anotación funcional con eggNOG-mapper, con validación de completitud taxonómica; (3) Reconstrucción del modelo metabólico a escala genómica (GEM) utilizando COBRApy y ModelSEEDpy, con curación iterativa, expansión mediante anotaciones eggNOG, enriquecimiento vía APIs de KEGG, y validación con MEMOTE; (4) Análisis de capacidades metabólicas mediante análisis de balance de flujos (FBA) para determinar viabilidad computacional y las reacciones involucradas en la generación de biomasa. La reproducibilidad se garantizó mediante repositorio Git estructurado conforme a principios FAIR, con trazabilidad completa y criterios cuantitativos de calidad para cada fase.
dc.description.notesThe 'Criolla Colombia' cultivar of Solanum tuberosum L. Group Phureja constitutes a strategic phytogenetic resource for Colombia, with approximately 18,000 hectares cultivated annually representing 15% of the national criolla potato production. However, the absence of a well-assembled and annotated reference genome, as well as a genome-scale metabolic model specific to this diploid cultivar, significantly limits the mechanistic understanding of the molecular determinants of its phenotype and restricts the development of efficient genetic improvement programs. De novo assembly of the complete genome of the 'Criolla Colombia' cultivar was performed using PacBio HiFi technology (15.2 Gb of data, average reads of 8 kb), followed by error correction with Inspector v1.2, quality control with BUSCO and BlobToolKit, and chromosomal scaffolding with RagTag. Structural gene prediction was executed with AUGUSTUS and functional annotation with eggNOG-mapper, achieving coverage of 79.4% of predicted proteins with KEGG, COG, and EC number assignments. Genome-scale metabolic model (GEM) reconstruction was implemented using COBRApy and ModelSEEDpy, with iterative curation, enrichment via KEGG APIs, validation with MEMOTE, and viability testing through flux balance analysis (FBA). A high-quality diploid assembly with two differentiated haplotypes was obtained (1.66 Gb, heterozygosity 1.36%), BUSCO completeness greater than 95% at all taxonomic levels, minimal contamination (<4.2%), and 96% taxonomic specificity in Solanaceae. Functional annotation identified 39,127 protein-coding genes with high chromosomal synteny relative to the reference genome DM1-3 516 R44 v6.1. The first metabolic model specific to the 'Criolla Colombia' cultivar was developed, multicompartmental and stoichiometrically consistent, with 1,063 biochemical reactions, 901 unique metabolites, and computational viability confirmed through FBA (biomass objective value: 361.32). This research generated the first complete genome and metabolic model specific to the 'Criolla Colombia' cultivar, filling a critical gap in the knowledge of diploid criolla potato. The achieved genomic-metabolic integration establishes a reproducible methodological framework for functional characterization of Andean crops and demonstrates the feasibility of generating international-quality resources for local genotypes. The resources constitute fundamental tools toward model-assisted genetic improvement, with potential for direct impact on criolla potato optimization and regional food security.eng
dc.description.researchareaBiologia de Sistemas
dc.description.researchareaBioinformática
dc.description.sponsorshipEste trabajo se desarrolló en el marco del Proyecto Técnico de Cooperación COL5026 de la Agencia Internacional de Energía Atómica (AIEA), titulado "Fortalecimiento de Capacidades en Técnicas Nucleares para el Mejoramiento de Cultivos", con el apoyo del Grupo de Investigación en Bioinformática y Biología de Sistemas (GiBBS) del Instituto de Genética de la Universidad Nacional de Colombia, sede Bogotá, y del grupo Biología Molecular - BIOMOLc de la Facultad de Ciencias y Educación de la Universidad Distrital Francisco José de Caldas. La infraestructura computacional para el ensamblaje genómico de novo fue proporcionada por el Fulton Supercomputing Lab de Brigham Young University (BYU, Utah, Estados Unidos), mediante la colaboración establecida con el Prof. Jeffrey Maughan. El modelado metabólico y análisis bioinformáticos se realizaron en el servidor dedicado del laboratorio GiBBS del Instituto de Genética de la Universidad Nacional de Colombia.
dc.description.technicalinfoTecnologías de secuenciación: PacBio Sequel IIe con química Sequel II Kit 2.0, modo HiFi-CCS, SMRT Cell 8M, procesado con SMRT Link v11.0.0. Extracción de ADN con DNeasy Plant Mini Kit (Qiagen). QC con NanoDrop 2000c, Agilent Bioanalyzer 2100 y Qubit dsDNA HS.spa
dc.description.technicalinfoEnsamblaje genómico: Hifiasm v0.18.5 para ensamblaje de novo. Herramientas auxiliares: Bedtools v2.30.0, SAMtools v1.15.1, Gfatools v0.5, SeqKit v2.3.1. Evaluación con BUSCO v5.4.7, assembly-stats v1.0.1, Jellyfish v2.3.0 y GenomeScope v2.0. Corrección de errores con Inspector v1.2. Detección de contaminación con BlobTools v1.2.2, BLAST+ v2.12.0 y Minimap2 v2.24.spa
dc.description.technicalinfoAnotación estructural y funcional: AUGUSTUS v3.5.0 para predicción de genes. eggNOG-mapper v2.1.12 con DIAMOND en modo sensitivo y base de datos eggNOG v6.0. Andamiaje cromosómico con RagTag v2.1.0 usando como referencia el genoma DM1-3 516 R44 v6.1. Validación de sintenia con D-GENIES.spa
dc.description.technicalinfoModelado metabólico: COBRApy v0.29.1, ModelSEEDpy, python-libsbml v5.20.5, solver GLPK v5.0.12. Validación con MEMOTE v0.17.0. Formato SBML Level 3 Version 2 con FBC v2, anotaciones MIRIAM y términos SBO. 25 scripts modulares en Python para curación, enriquecimiento vía APIs de KEGG, inyección de GPRs y validación FBA.spa
dc.description.technicalinfoBases de datos: eggNOG v6.0, KEGG, ChEBI, Rhea, Gene Ontology, BiGG Models, ModelSEED, UniProt, NCBI NT, COG y CAZy.spa
dc.description.technicalinfoLenguajes y entornos: Python 3.10.9, R 4.2.1, Bash 5.3.3. Gestión de ambientes con conda v4.14.0, pyenv-virtualenv y Docker.spa
dc.description.technicalinfoInfraestructura computacional: Clúster HPC del Fulton Supercomputing Lab (BYU): 34,948 núcleos CPU, 176 TB RAM, 351 GPUs, SLURM, Red Hat Enterprise Linux 9.4. Servidor del Instituto de Genética (UNAL-GiBBS): AMD 72 núcleos, 256 GB RAM, Ubuntu Server 18.04.6 LTS.spa
dc.description.technicalinfoSequencing technologies: PacBio Sequel IIe with Sequel II Kit 2.0 chemistry, HiFi-CCS mode, SMRT Cell 8M, processed with SMRT Link v11.0.0. DNA extraction with DNeasy Plant Mini Kit (Qiagen). QC with NanoDrop 2000c, Agilent Bioanalyzer 2100, and Qubit dsDNA HS.eng
dc.description.technicalinfoGenome assembly: Hifiasm v0.18.5 for de novo assembly. Auxiliary tools: Bedtools v2.30.0, SAMtools v1.15.1, Gfatools v0.5, SeqKit v2.3.1. Evaluation with BUSCO v5.4.7, assembly-stats v1.0.1, Jellyfish v2.3.0, and GenomeScope v2.0. Error correction with Inspector v1.2. Contamination detection with BlobTools v1.2.2, BLAST+ v2.12.0, and Minimap2 v2.24.eng
dc.description.technicalinfoStructural and functional annotation: AUGUSTUS v3.5.0 for gene prediction. eggNOG-mapper v2.1.12 with DIAMOND in sensitive mode and eggNOG v6.0 database. Chromosomal scaffolding with RagTag v2.1.0 using DM1-3 516 R44 v6.1 genome as reference. Synteny validation with D-GENIES.eng
dc.description.technicalinfoMetabolic modeling: COBRApy v0.29.1, ModelSEEDpy, python-libsbml v5.20.5, GLPK solver v5.0.12. Validation with MEMOTE v0.17.0. SBML Level 3 Version 2 format with FBC v2, MIRIAM annotations, and SBO terms. 25 modular Python scripts for curation, enrichment via KEGG APIs, GPR injection, and FBA validation.eng
dc.description.technicalinfoDatabases: eggNOG v6.0, KEGG, ChEBI, Rhea, Gene Ontology, BiGG Models, ModelSEED, UniProt, NCBI NT, COG, and CAZy.eng
dc.description.technicalinfoLanguages and environments: Python 3.10.9, R 4.2.1, Bash 5.3.3. Environment management with conda v4.14.0, pyenv-virtualenv, and Docker.eng
dc.description.technicalinfoComputational infrastructure: HPC cluster at Fulton Supercomputing Lab (BYU): 34,948 CPU cores, 176 TB RAM, 351 GPUs, SLURM, Red Hat Enterprise Linux 9.4. Genetics Institute server (UNAL-GiBBS): AMD 72 cores, 256 GB RAM, Ubuntu Server 18.04.6 LTS.eng
dc.format.extentxv, 120 páginas
dc.format.mimetypeapplication/pdf
dc.identifier.instnameUniversidad Nacional de Colombiaspa
dc.identifier.reponameRepositorio Institucional Universidad Nacional de Colombiaspa
dc.identifier.repourlhttps://repositorio.unal.edu.co/spa
dc.identifier.urihttps://repositorio.unal.edu.co/handle/unal/89562
dc.language.isospa
dc.publisherUniversidad Nacional de Colombia
dc.publisher.branchUniversidad Nacional de Colombia - Sede Bogotá
dc.publisher.facultyFacultad de Ingeniería
dc.publisher.placeBogotá, Colombia
dc.publisher.programBogotá - Ingeniería - Maestría en Bioinformática
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dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.rights.licenseAtribución-NoComercial 4.0 Internacional
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/
dc.subject.blaaBiología de sistemas
dc.subject.ddc570 - Biología
dc.subject.lembPapa (tuberculos)spa
dc.subject.lembPotatoeseng
dc.subject.lembGenomas de plantasspa
dc.subject.lembPlant genomeseng
dc.subject.lembBioinformáticaspa
dc.subject.lembBioinformaticseng
dc.subject.proposalEnsamblaje genómico de alta fidelidadspa
dc.subject.proposalAnotación funcional del genomaspa
dc.subject.proposalReconstrucción metabólica a escala genómicaspa
dc.subject.proposalModelado computacional del metabolismospa
dc.subject.proposalSimulación de flujos metabólicosspa
dc.subject.proposalSolanum tuberosum Grupo Phurejaspa
dc.subject.proposalAnálisis de biomasa vegetalspa
dc.subject.proposalBiología de sistemas vegetalspa
dc.subject.proposalHigh-fidelity genome assemblyeng
dc.subject.proposalFunctional genome annotationeng
dc.subject.proposalGenome-scale metabolic reconstructioneng
dc.subject.proposalComputational metabolic modelingeng
dc.subject.proposalFlux balance analysiseng
dc.subject.proposalSolanum tuberosum Group Phurejaeng
dc.subject.proposalPlant biomass analysiseng
dc.subject.proposalPlant systems biologyeng
dc.titleAnálisis Genómico y Reconstrucción Metabólica de la Variedad Colombia de Solanum tuberosum L. Grupo Phurejaspa
dc.title.translatedGenomic Analysis and Metabolic Reconstruction of the Colombia Variety of Solanum tuberosum L. Group Phurejaeng
dc.typeTrabajo de grado - Maestría
dc.type.coarhttp://purl.org/coar/resource_type/c_bdcc
dc.type.coarversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.contentText
dc.type.driverinfo:eu-repo/semantics/masterThesis
dc.type.redcolhttp://purl.org/redcol/resource_type/TM
dc.type.versioninfo:eu-repo/semantics/acceptedVersion
dcterms.audience.professionaldevelopmentEstudiantes
dcterms.audience.professionaldevelopmentInvestigadores
dcterms.audience.professionaldevelopmentEspecializada
oaire.accessrightshttp://purl.org/coar/access_right/c_abf2
oaire.awardtitleCOL5026: Enhancing Crop Productivity of Creole Potato Using Nuclear and Related Techniques
oaire.fundernameOrganismo Internacional de Energía Atómica

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