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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
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Directrices para investigar la causalidad de las variantes de secuencia en enfermedades humanas
D G MacArthur1, T A Manolio2, D P Dimmock3
11] Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA.
Nature
|April 25, 2014
Resumen
Se necesitan directrices para identificar con precisión las variantes genéticas que causan enfermedades. Establecer estándares claros evitará diagnósticos erróneos y mejorará nuestra comprensión de las enfermedades humanas, acelerando la medicina genómica.
Área de la Ciencia:
- Genética La genética.
- La medicina genómica es la medicina genómica.
- La bioinformática es la bioinformática.
Sus antecedentes:
- El rápido descubrimiento de variantes genéticas requiere métodos robustos para la interpretación clínica.
- Distinguir las variantes patógenas de las benignas es crucial para el diagnóstico preciso de la enfermedad.
- La falta actual de directrices estandarizadas corre el riesgo de una mala interpretación de los datos genómicos.
Objetivo del estudio:
- Para abordar la necesidad urgente de directrices claras en la evaluación de variantes de secuencia humana.
- Proponer un marco para resumir la confianza en la patogenicidad de la variante.
- Identificar los desafíos y las necesidades de recursos en la interpretación de variantes.
Principales métodos:
- Revisión de los desafíos actuales en la evaluación de variantes de secuencia en enfermedades humanas.
- Integrar la evidencia a nivel de genes y a nivel de variantes para la evaluación de la causalidad.
- Desarrollar las directrices propuestas para el resumen de la confianza.
Principales resultados:
- Se identificaron desafíos clave para distinguir entre las variantes funcionales y las que causan enfermedades.
- Propuso un marco para evaluar la confianza en la patogenicidad de la variante.
- Áreas destacadas que requieren un mayor desarrollo en los recursos de interpretación de variantes.
Conclusiones:
- Las pautas estandarizadas son esenciales para la aplicación clínica confiable de los datos genómicos.
- La evaluación precisa de la variante es fundamental para evitar informes de causalidad de falsos positivos.
- Se necesita un mayor desarrollo de recursos para apoyar la interpretación de variantes y el diagnóstico clínico.
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