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Updated: Sep 9, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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KinshipLR: desarrollo de software y aplicación para pruebas complejas de parentesco en genética forense

Xingru Zhang1, Yating Fang2, Yuxin Guo3

  • 1Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi'an Jiaotong University, Xi'an 710004, China; School of Basic Medical Science, Anhui Medical University, Hefei 230031, China.

Forensic science international
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PubMed
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Al optimizar las pruebas de parentesco complejas, este estudio encontró que agregar X-STR a STR autosómicas mejora significativamente la precisión. El paquete KinshipLR R y el método IBS-SVM mejoran la selección de marcadores genéticos para aplicaciones forenses confiables.

Palabras clave:
Pruebas complejas de parentescoMarcadores de ADNSimulación de la familiaRelación de probabilidadSecuenciación de próxima generación

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Área de la Ciencia:

  • Genética forense
  • Genética de las poblaciones
  • La bioinformática

Sus antecedentes:

  • Las pruebas de parentesco complejas enfrentan desafíos debido a los datos genéticos intrincados y la selección de marcadores no optimizada.
  • La evaluación sistemática de marcadores genéticos como los STR autosómicos, los SNPs y los X-STR carece de relaciones complejas.

Objetivo del estudio:

  • Desarrollar un paquete R, KinshipLR, para optimizar la selección de marcadores genéticos en pruebas complejas de parentesco.
  • Evaluar la eficacia de los STR autosómicos, los SNPs y los X-STR en diversos escenarios de parentesco y poblaciones.
  • Para comparar el rendimiento de diferentes algoritmos de evaluación para el análisis de parentesco.

Principales métodos:

  • Desarrolló el paquete KinshipLR R para la selección de biomarcadores.
  • Se realizaron 10.000 simulaciones utilizando datos de frecuencia de alelos de la población china para varios escenarios.
  • Factores evaluados que influyen en la precisión de las pruebas: tipo de relación, población, tipo de marcador y algoritmos (LR frente a IBS-SVM).

Principales resultados:

  • La eficacia del marcador genético en las pruebas de parentesco varía significativamente entre las poblaciones.
  • La integración de 27 X-STR con 20 CODIS-STR aumenta sustancialmente la precisión de las relaciones como hermanos y sobrinas.
  • El IBS con método SVM demuestra un rendimiento superior a los métodos tradicionales basados en LR en pruebas de parentesco complejas.

Conclusiones:

  • El estudio proporciona un enfoque personalizado para seleccionar marcadores genéticos para mejorar la eficiencia y confiabilidad de las pruebas de parentesco complejas.
  • Los hallazgos ofrecen información valiosa para optimizar las aplicaciones genéticas forenses.
  • Los X-STR juegan un papel crucial en la mejora del poder de las pruebas de parentesco, especialmente en escenarios desafiantes.