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Hacia conjuntos genómicos completos y libres de errores de todas las especies de vertebrados
Arang Rhie1, Shane A McCarthy2,3, Olivier Fedrigo4
1Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Nature
|April 29, 2021
Resumen
La generación de genomas de referencia de vertebrados de alta calidad es crucial para el avance de la genómica. Este estudio presenta las lecciones clave aprendidas al ensamblar 16 especies, enfatizando la secuenciación de larga duración para ensamblajes genómicos precisos.
Área de la Ciencia:
- La genómica
- La bioinformática
- Genómica comparada
Sus antecedentes:
- Los genomas de referencia de alta calidad son esenciales para las aplicaciones de la genómica en biología, investigación de enfermedades y conservación.
- Actualmente, los genomas de referencia completos están disponibles para un número limitado de especies no microbianas.
- El consorcio internacional Genome 10K (G10K) tenía como objetivo desarrollar métodos rentables para ensamblar genomas de referencia precisos y completos.
Objetivo del estudio:
- Evaluar y desarrollar métodos rentables para ensamblar genomas de referencia de vertebrados de alta precisión y casi completos.
- Para presentar las lecciones aprendidas de la generación de conjuntos de genoma para 16 especies de vertebrados diversos.
- Para informar el Proyecto de Genomas de Vertebrados (VGP) en curso.
Principales métodos:
- Utilizó tecnologías de secuenciación de larga lectura para el ensamblaje del genoma.
- Centrado en abordar los desafíos relacionados con las repeticiones complejas y la heterocigosidad del haplotipo.
- Generó y analizó ensamblajes de genoma para 16 especies en seis linajes principales de vertebrados.
Principales resultados:
- Confirmó el papel esencial de la secuenciación de larga lectura en la maximización de la calidad del genoma.
- Identificación y corrección de errores sustanciales en los genomas de referencia existentes.
- Descubrió ideas biológicas que incluyen duplicaciones falsas de genes, variaciones en el tamaño de los genes, reordenamientos cromosómicos específicos del linaje y patrones conservados ricos en GC.
Conclusiones:
- Las lecciones aprendidas del proyecto G10K son fundamentales para mejorar la calidad del ensamblaje del genoma.
- El Proyecto de Genomas de Vertebrados (VGP) se basará en estos hallazgos para generar genomas de alta calidad para todas las especies de vertebrados.
- Estos esfuerzos marcarán el comienzo de una nueva era de descubrimientos en las ciencias de la vida.
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