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Ultra-long Read Sequencing for Whole Genomic DNA Analysis
Published on: March 15, 2019
Mapeo y secuenciación de la variación estructural de ocho genomas humanos
Jeffrey M Kidd1, Gregory M Cooper, William F Donahue
1Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA.
Nature
|May 3, 2008
Resumen
Este estudio mapea las variaciones genéticas de escala intermedia, incluidas las inserciones y deleciones, en el genoma humano. Los investigadores identificaron numerosas nuevas variantes estructurales y sus patrones en diversas poblaciones.
Área de la Ciencia:
- La genómica es la genómica.
- Genética Humana Genética Humana.
- Biología Molecular Biología Molecular
Sus antecedentes:
- La variación genética humana abarca múltiples escalas, desde grandes cambios cromosómicos hasta polimorfismos de un solo nucleótido.
- Las variaciones estructurales de escala intermedia (inserciones, deleciones, inversiones) son cruciales para comprender la diversidad del genoma.
Objetivo del estudio:
- Caracterizar las variaciones estructurales de escala intermedia en el genoma humano.
- Proporcionar un mapa de secuencia de alta resolución de la variación estructural humana.
- Para investigar los procesos mutacionales que dan forma al genoma humano.
Principales métodos:
- Se empleó un método basado en clones para analizar la variación estructural.
- Variación estructural interrogada en ocho individuos de diversa ascendencia geográfica.
- Se realizó la secuenciación completa de las variantes estructurales identificadas.
Principales resultados:
- Se refinó la ubicación de 1.695 variantes estructurales, con el 50% encontrado en múltiples individuos.
- Descubrió 525 nuevas secuencias de inserción no presentes en el genoma humano de referencia.
- Reveló una considerable complejidad del locus y conocimientos sobre los procesos mutacionales que dan forma al genoma.
Conclusiones:
- Estableció el primer mapa de secuencia de alta resolución de la variación estructural humana.
- Proporcionó un estándar para las plataformas de genotipado y la futura secuenciación del genoma individual.
- Destacó la prevalencia y la novedad de las variaciones estructurales a través de diversos ancestros.
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