Análisis Genómico y Reconstrucción Metabólica de la Variedad Colombia de Solanum tuberosum L. Grupo Phureja
| dc.contributor.advisor | Pinzón Velasco, Andrés Mauricio | |
| dc.contributor.advisor | Becerra Galindo, Luis Francisco | |
| dc.contributor.author | Quintero Lopez, Oscar Alexis | |
| dc.contributor.cvlac | Quintero López, Oscar Alexis [0000186886] | |
| dc.contributor.googlescholar | Pinzón Velasco, Andrés Mauricio [5uV4sscAAAAJ] | |
| dc.contributor.orcid | Quintero López, Oscar Alexis [0000000189266400] | |
| dc.contributor.researchgate | Pinzón Velasco, Andrés Mauricio [Andres-Pinzon-13] | |
| dc.contributor.researchgroup | Grupo de Investigación en Bioinformática y Biología de Sistemas | |
| dc.contributor.researchgroup | Biología Molecular - BIOMOLc | |
| dc.date.accessioned | 2026-02-16T16:11:40Z | |
| dc.date.available | 2026-02-16T16:11:40Z | |
| dc.date.issued | 2025 | |
| dc.description | Ilustraciones, diagramas, gráficos | spa |
| dc.description.abstract | El 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.degreelevel | Maestría | |
| dc.description.degreename | Magíster en Bioinformática | |
| dc.description.methods | Metodología 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.notes | The '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.researcharea | Biologia de Sistemas | |
| dc.description.researcharea | Bioinformática | |
| dc.description.sponsorship | Este 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.technicalinfo | Tecnologías 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.technicalinfo | Ensamblaje 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.technicalinfo | Anotación 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.technicalinfo | Modelado 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.technicalinfo | Bases de datos: eggNOG v6.0, KEGG, ChEBI, Rhea, Gene Ontology, BiGG Models, ModelSEED, UniProt, NCBI NT, COG y CAZy. | spa |
| dc.description.technicalinfo | Lenguajes 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.technicalinfo | Infraestructura 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.technicalinfo | Sequencing 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.technicalinfo | Genome 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.technicalinfo | Structural 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.technicalinfo | Metabolic 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.technicalinfo | Databases: eggNOG v6.0, KEGG, ChEBI, Rhea, Gene Ontology, BiGG Models, ModelSEED, UniProt, NCBI NT, COG, and CAZy. | eng |
| dc.description.technicalinfo | Languages 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.technicalinfo | Computational 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.extent | xv, 120 páginas | |
| dc.format.mimetype | application/pdf | |
| dc.identifier.instname | Universidad Nacional de Colombia | spa |
| dc.identifier.reponame | Repositorio Institucional Universidad Nacional de Colombia | spa |
| dc.identifier.repourl | https://repositorio.unal.edu.co/ | spa |
| dc.identifier.uri | https://repositorio.unal.edu.co/handle/unal/89562 | |
| dc.language.iso | spa | |
| dc.publisher | Universidad Nacional de Colombia | |
| dc.publisher.branch | Universidad Nacional de Colombia - Sede Bogotá | |
| dc.publisher.faculty | Facultad de Ingeniería | |
| dc.publisher.place | Bogotá, Colombia | |
| dc.publisher.program | Bogotá - Ingeniería - Maestría en Bioinformática | |
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| dc.rights.accessrights | info:eu-repo/semantics/openAccess | |
| dc.rights.license | Atribución-NoComercial 4.0 Internacional | |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ | |
| dc.subject.blaa | Biología de sistemas | |
| dc.subject.ddc | 570 - Biología | |
| dc.subject.lemb | Papa (tuberculos) | spa |
| dc.subject.lemb | Potatoes | eng |
| dc.subject.lemb | Genomas de plantas | spa |
| dc.subject.lemb | Plant genomes | eng |
| dc.subject.lemb | Bioinformática | spa |
| dc.subject.lemb | Bioinformatics | eng |
| dc.subject.proposal | Ensamblaje genómico de alta fidelidad | spa |
| dc.subject.proposal | Anotación funcional del genoma | spa |
| dc.subject.proposal | Reconstrucción metabólica a escala genómica | spa |
| dc.subject.proposal | Modelado computacional del metabolismo | spa |
| dc.subject.proposal | Simulación de flujos metabólicos | spa |
| dc.subject.proposal | Solanum tuberosum Grupo Phureja | spa |
| dc.subject.proposal | Análisis de biomasa vegetal | spa |
| dc.subject.proposal | Biología de sistemas vegetal | spa |
| dc.subject.proposal | High-fidelity genome assembly | eng |
| dc.subject.proposal | Functional genome annotation | eng |
| dc.subject.proposal | Genome-scale metabolic reconstruction | eng |
| dc.subject.proposal | Computational metabolic modeling | eng |
| dc.subject.proposal | Flux balance analysis | eng |
| dc.subject.proposal | Solanum tuberosum Group Phureja | eng |
| dc.subject.proposal | Plant biomass analysis | eng |
| dc.subject.proposal | Plant systems biology | eng |
| dc.title | Análisis Genómico y Reconstrucción Metabólica de la Variedad Colombia de Solanum tuberosum L. Grupo Phureja | spa |
| dc.title.translated | Genomic Analysis and Metabolic Reconstruction of the Colombia Variety of Solanum tuberosum L. Group Phureja | eng |
| dc.type | Trabajo de grado - Maestría | |
| dc.type.coar | http://purl.org/coar/resource_type/c_bdcc | |
| dc.type.coarversion | http://purl.org/coar/version/c_ab4af688f83e57aa | |
| dc.type.content | Text | |
| dc.type.driver | info:eu-repo/semantics/masterThesis | |
| dc.type.redcol | http://purl.org/redcol/resource_type/TM | |
| dc.type.version | info:eu-repo/semantics/acceptedVersion | |
| dcterms.audience.professionaldevelopment | Estudiantes | |
| dcterms.audience.professionaldevelopment | Investigadores | |
| dcterms.audience.professionaldevelopment | Especializada | |
| oaire.accessrights | http://purl.org/coar/access_right/c_abf2 | |
| oaire.awardtitle | COL5026: Enhancing Crop Productivity of Creole Potato Using Nuclear and Related Techniques | |
| oaire.fundername | Organismo Internacional de Energía Atómica |
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