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Updated: May 15, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

Identificación de genomas personales por el apellido inferencia de la inferencia.

Melissa Gymrek1, Amy L McGuire, David Golan

  • 1Whitehead Institute for Biomedical Research, 9 Cambridge Center, Cambridge, MA 02142, USA.

Science (New York, N.Y.)
|January 19, 2013
PubMed
Resumen

Los genomas personales se pueden desanonimizar vinculando las repeticiones tandem cortas del cromosoma Y (Y-STR) a las bases de datos de genealogía públicas. Este método, utilizando apellidos y metadatos, puede identificar individuos en datos de secuenciación compartidos.

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Área de la Ciencia:

  • La genómica es la genómica.
  • La bioinformática es la bioinformática.
  • Genética de la población Genética de la población.

Sus antecedentes:

  • El intercambio de datos genómicos está aumentando, a menudo sin identificadores personales directos.
  • Las bases de datos de genealogía genética recreativa han crecido significativamente en tamaño y alcance.
  • Las preocupaciones de privacidad surgen de la posibilidad de re-identificación de individuos en conjuntos de datos anónimos.

Objetivo del estudio:

  • Investigar la viabilidad de recuperar apellidos de datos genómicos anónimos.
  • Evaluar la efectividad del uso de repeticiones tandem cortas del cromosoma Y (Y-STR) para la recuperación de apellidos.
  • Evaluar el impacto de la combinación de datos genéticos con otros metadatos para la identificación individual.

Principales métodos:

  • El perfil de Y-STRs a partir de los datos del genoma personal.
  • Consultar bases de datos de genealogía genética recreativa de acceso público.
  • Utilizando metadatos adicionales (edad, estado) para triangular la identidad.
  • Análisis cuantitativo de las probabilidades de identificación para los hombres estadounidenses.

Principales resultados:

  • Los apellidos se pueden recuperar con éxito de los genomas personales utilizando el perfil Y-STR y las bases de datos públicas.
  • La combinación de los datos Y-STR con metadatos como la edad y el estado aumenta significativamente la probabilidad de identificación.
  • La técnica se basa únicamente en recursos en línea gratuitos y de acceso público.
  • Identificación de alta probabilidad demostrada de los participantes en proyectos de secuenciación pública.

Conclusiones:

  • Los datos genómicos anonimizados, específicamente los Y-STR, pueden vincularse a individuos a través de recursos de genealogía pública.
  • La combinación de marcadores genéticos y metadatos plantea un riesgo significativo de privacidad para las personas en los conjuntos de datos de secuenciación pública.
  • Las futuras prácticas de intercambio de datos genómicos deben considerar estos riesgos de reidentificación e implementar medidas sólidas de preservación de la privacidad.