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El genoma completo de un individuo mediante la secuenciación masiva de ADN paralelo
David A Wheeler1, Maithreyan Srinivasan, Michael Egholm
1Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Nature
|April 19, 2008
Resumen
La tecnología de secuenciación de próxima generación ha secuenciado con éxito el genoma diploide completo de un individuo de manera rápida y asequible. Este avance en la medicina genómica allana el camino para la secuenciación personalizada del genoma y una comprensión más profunda de las variaciones genéticas.
Área de la Ciencia:
- La genómica y la medicina personalizada
- Biología Molecular y Genética.
Sus antecedentes:
- El gran tamaño del genoma humano diploide (aprox. 6 gigabases) ha obstaculizado históricamente la secuenciación completa del genoma individual.
- Los avances en las tecnologías de ácido nucleico y la comprensión del papel de la variación genética en la enfermedad y la respuesta a los medicamentos alimentan la promesa de la medicina genómica.
Objetivo del estudio:
- Para superar las limitaciones de secuenciar genomas humanos individuales completos.
- Demostrar la viabilidad de una secuenciación rápida, rentable y completa del genoma diploide utilizando nuevas tecnologías.
Principales métodos:
- Se empleó secuenciación masiva paralela en recipientes de reacción del tamaño de un picolitro.
- El genoma diploide de James D. Watson fue secuenciado a una redundancia de 7.4 veces durante dos meses.
Principales resultados:
- La secuencia completa del genoma diploide se obtuvo en dos meses a aproximadamente el 1% del costo de los métodos tradicionales.
- Identificación de 3,3 millones de polimorfismos de nucleótido único (SNP), incluidas 10.654 variaciones de secuencia de codificación.
- Detección precisa de polimorfismos de inserción / eliminación a pequeña escala y variaciones en el número de copias, incluidas grandes ganancias / pérdidas de segmentos cromosómicos.
- Adquisición de una nueva secuencia humana, incluyendo genes previamente no identificados, evitando la pérdida de ADN asociada con la clonación bacteriana.
Conclusiones:
- Este estudio representa el primer genoma secuenciado utilizando tecnologías de próxima generación, lo que demuestra su velocidad, rentabilidad y exhaustividad.
- La tecnología desarrollada supera las limitaciones de los métodos anteriores, permitiendo una visión más profunda de la composición genética individual.
- Este estudio piloto sienta las bases para futuras iniciativas de secuenciación personalizada del genoma en el cuidado de la salud.
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