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Comentario sobre "Diferencias generalizadas de secuencias de ARN y ADN en el transcriptoma humano"

Joseph K Pickrell¹, Yoav Gilad, Jonathan K Pritchard

¹Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA. pickrell@uchicago.edu

Science (New York, N.Y.)

|March 17, 2012

Resumen

Los errores técnicos, no la regulación genética, probablemente explican más de 10.000 desajustes en la secuencia de ARN-ADN. Nuestro análisis indica que los artefactos como los errores de mapeo y la variación genética explican la mayoría de las discrepancias encontradas en los estudios de expresión génica.

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Área de la Ciencia:

Biología Molecular Biología Molecular
La genómica es la genómica.
La bioinformática es la bioinformática.

Sus antecedentes:

Estudios recientes reportaron numerosos desajustes en las secuencias de ARN mensajero (ARNm) y ADN.
Estas discrepancias se atribuyeron inicialmente a nuevos mecanismos de regulación génica.

Objetivo del estudio:

Para reevaluar la causa de las discrepancias de secuencias de ARNm-ADN reportadas.
Determinar en qué medida los artefactos técnicos contribuyen a estas diferencias observadas.

Principales métodos:

Análisis de secuenciación de lectura de mapeo a un genoma de referencia.
Evaluación de las tasas de error de secuenciación.
Evaluación de la variación genética dentro de los individuos.

Principales resultados:

Al menos el 88% de las >10.000 discrepancias de ARNm-ADN reportadas pueden atribuirse a artefactos técnicos.
Los artefactos clave identificados incluyen errores de mapeo de lectura, errores de secuenciación y variación genética.

Conclusiones:

La mayoría de los desajustes de secuencias de ARNm-ADN reportados anteriormente se deben probablemente a limitaciones técnicas, no a una nueva regulación génica.
Revisar las tuberías de análisis de datos es crucial para la interpretación precisa de los estudios de expresión génica y regulación.