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El Proyecto de Cáncer Pediátrico Abierto

Zhuangzhuang Geng1,2, Eric Wafula3, Ryan J Corbett1,2,4

  • 1Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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Resumen

El Proyecto de Cáncer Pediátrico Abierto (OpenPedCan) proporciona un conjunto de datos multiómicos armonizados para 6,112 pacientes con cáncer pediátrico. Este recurso de código abierto acelera la investigación del cáncer pediátrico y la traducción clínica a través de herramientas de análisis y datos accesibles y reproducibles.

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El acoplador- ¿Qué es eso?multiómicaCiencia abiertacáncer pediátricoReproducibilidad

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Área de la Ciencia:

  • La genómica
  • En el campo de la oncología
  • La bioinformática

Sus antecedentes:

  • La iniciativa Atlas de Tumores Cerebrales Pediátricos Abiertos (OpenPBTA) caracterizó 1.074 tumores cerebrales pediátricos.
  • El Proyecto de Cáncer Pediátrico Abierto (OpenPedCan) extiende esto mediante la creación de un conjunto de datos multiómicos armonizados.

Objetivo del estudio:

  • Establecer un conjunto completo de datos multiómicos de código abierto para cánceres pediátricos.
  • Proporcionar a los investigadores flujos de trabajo de análisis reproducibles.

Principales métodos:

  • Secuenciación armonizada de todo el genoma (WGS), secuenciación de todo el exoma (WXS), secuenciación de ARN y datos de secuenciación dirigida.
  • Proteómica integrada, fosfo-proteómica, secuenciación de miARN y datos de matriz de metilación.
  • Desarrollo de flujos de trabajo reproducibles y documentados para el procesamiento y análisis de datos.

Principales resultados:

  • El conjunto de datos de OpenPedCan incluye 6,112 pacientes pediátricos con 7,096 eventos tumorales en diversas histologías.
  • Se dispone de casi 48.000 especímenes biológicos totales (tumores y normales).
  • Subtipo molecular ampliado para tumores cerebrales utilizando datos de metilación, alineado con las clasificaciones de la OMS 2021.

Conclusiones:

  • El marco de datos y análisis de OpenPedCan está abiertamente disponible.
  • Facilita el descubrimiento acelerado, la validación y la traducción clínica en la investigación del cáncer pediátrico.