Identificación de variantes genéticas de alta penetrancia de línea germinal asociadas a cáncer a partir de datos exómicos en una muestra de participantes del departamento de Caldas
Diagramas, tablas, gráficas.
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2025
- Institución:
- Universidad de Caldas
- Repositorio:
- Repositorio Institucional U. Caldas
- Idioma:
- spa
- OAI Identifier:
- oai:repositorio.ucaldas.edu.co:ucaldas/26167
- Acceso en línea:
- https://repositorio.ucaldas.edu.co/handle/ucaldas/26167
- Palabra clave:
- 570 - Biología::576 - Genética y evolución
570 - Biología
610 - Medicina y salud
1. Ciencias Naturales::1F. Ciencias biológicas::1F03. Bioquímica y biología molecular
3. Ciencias Médicas y de la Salud
Variantes patogénicas
Cáncer
Secuenciación de exoma
Llamadores de variantes
Población de Caldas
Cáncer
Biología molecular
- Rights
- License
- https://creativecommons.org/licenses/by/4.0/
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oai:repositorio.ucaldas.edu.co:ucaldas/26167 |
| network_acronym_str |
REPOUCALDA |
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Repositorio Institucional U. Caldas |
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| dc.title.none.fl_str_mv |
Identificación de variantes genéticas de alta penetrancia de línea germinal asociadas a cáncer a partir de datos exómicos en una muestra de participantes del departamento de Caldas |
| title |
Identificación de variantes genéticas de alta penetrancia de línea germinal asociadas a cáncer a partir de datos exómicos en una muestra de participantes del departamento de Caldas |
| spellingShingle |
Identificación de variantes genéticas de alta penetrancia de línea germinal asociadas a cáncer a partir de datos exómicos en una muestra de participantes del departamento de Caldas 570 - Biología::576 - Genética y evolución 570 - Biología 610 - Medicina y salud 1. Ciencias Naturales::1F. Ciencias biológicas::1F03. Bioquímica y biología molecular 3. Ciencias Médicas y de la Salud Variantes patogénicas Cáncer Secuenciación de exoma Llamadores de variantes Población de Caldas Cáncer Biología molecular |
| title_short |
Identificación de variantes genéticas de alta penetrancia de línea germinal asociadas a cáncer a partir de datos exómicos en una muestra de participantes del departamento de Caldas |
| title_full |
Identificación de variantes genéticas de alta penetrancia de línea germinal asociadas a cáncer a partir de datos exómicos en una muestra de participantes del departamento de Caldas |
| title_fullStr |
Identificación de variantes genéticas de alta penetrancia de línea germinal asociadas a cáncer a partir de datos exómicos en una muestra de participantes del departamento de Caldas |
| title_full_unstemmed |
Identificación de variantes genéticas de alta penetrancia de línea germinal asociadas a cáncer a partir de datos exómicos en una muestra de participantes del departamento de Caldas |
| title_sort |
Identificación de variantes genéticas de alta penetrancia de línea germinal asociadas a cáncer a partir de datos exómicos en una muestra de participantes del departamento de Caldas |
| dc.contributor.none.fl_str_mv |
Rodríguez-Rey, Ghennie Tatiana Orjuela Rodríguez, Marcela |
| dc.subject.none.fl_str_mv |
570 - Biología::576 - Genética y evolución 570 - Biología 610 - Medicina y salud 1. Ciencias Naturales::1F. Ciencias biológicas::1F03. Bioquímica y biología molecular 3. Ciencias Médicas y de la Salud Variantes patogénicas Cáncer Secuenciación de exoma Llamadores de variantes Población de Caldas Cáncer Biología molecular |
| topic |
570 - Biología::576 - Genética y evolución 570 - Biología 610 - Medicina y salud 1. Ciencias Naturales::1F. Ciencias biológicas::1F03. Bioquímica y biología molecular 3. Ciencias Médicas y de la Salud Variantes patogénicas Cáncer Secuenciación de exoma Llamadores de variantes Población de Caldas Cáncer Biología molecular |
| description |
Diagramas, tablas, gráficas. |
| publishDate |
2025 |
| dc.date.none.fl_str_mv |
2025-11-13T22:25:11Z 2025-11-13T22:25:11Z 2025-11-13 |
| dc.type.none.fl_str_mv |
Trabajo de grado - Pregrado http://purl.org/coar/resource_type/c_7a1f Text info:eu-repo/semantics/bachelorThesis |
| dc.identifier.none.fl_str_mv |
https://repositorio.ucaldas.edu.co/handle/ucaldas/26167 Universidad de Caldas Repositorio Institucional Universidad de Caldas repositorio.ucaldas.edu.co |
| url |
https://repositorio.ucaldas.edu.co/handle/ucaldas/26167 |
| identifier_str_mv |
Universidad de Caldas Repositorio Institucional Universidad de Caldas repositorio.ucaldas.edu.co |
| dc.language.none.fl_str_mv |
spa |
| language |
spa |
| dc.relation.none.fl_str_mv |
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https://creativecommons.org/licenses/by/4.0/ Atribución 4.0 Internacional (CC BY 4.0) |
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Universidad de Caldas Facultad de Ciencias Exactas y Naturales Colombia, Caldas, Manizales Biología |
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Universidad de Caldas Facultad de Ciencias Exactas y Naturales Colombia, Caldas, Manizales Biología |
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Universidad de Caldas |
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Identificación de variantes genéticas de alta penetrancia de línea germinal asociadas a cáncer a partir de datos exómicos en una muestra de participantes del departamento de Caldas570 - Biología::576 - Genética y evolución570 - Biología610 - Medicina y salud1. Ciencias Naturales::1F. Ciencias biológicas::1F03. Bioquímica y biología molecular3. Ciencias Médicas y de la SaludVariantes patogénicasCáncerSecuenciación de exomaLlamadores de variantesPoblación de CaldasCáncerBiología molecularDiagramas, tablas, gráficas.This study identified pathogenic or likely pathogenic variants using exome data from 250 individuals from Caldas. A comparative analysis of three variant callers was employed, followed by a rigorous two-stage filtering process: first, using a high-penetrance cancer gene panel, and second, by clinical classification according to ClinVar. Although Clair3 initially detected the highest number of variants, clinical filtering drastically reduced these sets. Bioinformatic analysis demonstrated that Longshot, despite its lower initial sensitivity, produced variants with significantly higher Genotype Quality and Depth (p < 0.001) compared to the other two algorithms. The final consolidation strategy, combining quality and consensus filters, resulted in a curated list of 12 variants, contributing to regional genetic knowledge for diagnostic precision.Este estudio identificó variantes patogénicas o probablemente patogénicas utilizando datos de exoma de 250 individuos de Caldas. Se empleó un análisis comparativo de tres llamadores de variantes seguido de un filtrado de dos etapas: primero, por un conjunto de genes de cáncer de alta penetrancia y, segundo, por clasificación clínica según ClinVar. Aunque Clair3 detectó inicialmente la mayor cantidad de variantes, el filtrado clínico redujo drásticamente los conjuntos. El análisis bioinformático demostró que Longshot, a pesar de su menor sensibilidad inicial, produjo variantes con Calidad de Genotipo y Profundidad significativamente superiores (p < 0.001) que los otros dos algoritmos. La estrategia de consolidación final, combinando filtros de calidad y consenso, resultó en una lista depurada de 12 variantes, aportando al conocimiento genético regional para la precisión diagnóstica.Resumen -- Introducción -- Materiales y Métodos -- Procesamiento de muestras, Preparación de Librerías y Secuenciación -- Análisis Bioinformático -- Resultados -- Genes de alta penetrancia asociados con cáncer hereditario -- Análisis entre Llamadores -- Listado de variantes patogénicas o probablemente patogénicas -- Discusión -- Comparación general de resultados entre llamadores -- Consolidación de variantes finales por consenso y calidad -- Posibles implicaciones de las variantes germinales patogénicas en la estabilidad genómica y la proliferación tumoral -- Compromiso de la integridad y estabilidad genómica -- Desregulación de la proliferación y adaptación tumoral -- Implicaciones futuras -- ReferenciasPregradoBiólogo(a)Bioinformática - Biología MolecularUniversidad de CaldasFacultad de Ciencias Exactas y NaturalesColombia, Caldas, ManizalesBiologíaRodríguez-Rey, Ghennie TatianaOrjuela Rodríguez, MarcelaGómez-Henao, Juan Felipe2025-11-13T22:25:11Z2025-11-13T22:25:11Z2025-11-13Trabajo de grado - Pregradohttp://purl.org/coar/resource_type/c_7a1fTextinfo:eu-repo/semantics/bachelorThesis33 páginasapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttps://repositorio.ucaldas.edu.co/handle/ucaldas/26167Universidad de CaldasRepositorio Institucional Universidad de Caldasrepositorio.ucaldas.edu.cospaAbildgaard, A. 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