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RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Pantheon-DNA: Sistema versátil de codificación-decodificación con algoritmos adaptativos integrados de

Adriano Galindo Leal1, Thiago Yuji Aoyagi1, André Guilherme Costa-Martins1

  • 1Artificial Intelligence and Analytics Department, Institute for Technological Research, São Paulo, 05508-901, SP, Brazil.

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Resumen
Este resumen es generado por máquina.

Pantheon-DNA es una nueva canalización para el almacenamiento de datos de ADN que maneja grandes conjuntos de datos de manera eficiente. Logra una alta recuperabilidad de datos y utiliza métodos novedosos para prevenir errores durante la codificación y recuperación de secuencias de ADN.

Palabras clave:
almacenamiento de datos de ADNesquemas de codificaciónpreprocesamiento de datos de secuenciacióningeniería de software

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Área de la Ciencia:

  • Biotecnología; Bioinformática; Almacenamiento de datos

Sus antecedentes:

  • El almacenamiento de datos de ADN ofrece alta densidad, pero enfrenta desafíos de escalabilidad y errores.; Las secuencias de ADN repetitivas pueden causar errores a nivel molecular y complicar el procesamiento de datos.; La gestión y recuperación eficientes de grandes conjuntos de datos de ADN es crucial para aplicaciones prácticas.

Objetivo del estudio:

  • Presentar Pantheon-DNA, una canalización de procesamiento de extremo a extremo para el almacenamiento de datos de ADN.; Abordar los desafíos de escalabilidad y eficiencia en los sistemas de almacenamiento de datos de ADN.; Mejorar la recuperabilidad y confiabilidad de los datos en el almacenamiento basado en ADN.

Principales métodos:

  • Se desarrolló un esquema de organización de datos y un procedimiento de aleatorización para prevenir patrones de secuencias de ADN problemáticos.; Se implementó una arquitectura de datos en bloques para mejorar el procesamiento paralelo y la recuperación.; Se utilizó el conocimiento previo de la estructura de datos codificados para simplificar el preprocesamiento y reducir la complejidad computacional.

Principales resultados:

  • Se logró una recuperabilidad de datos de ≥99.996% con una cobertura de 10× en condiciones de Baja Tasa de Error (LER) y Alta Tasa de Error (HER).; Se codificaron y decodificaron con éxito 1.59 MB de datos que contenían múltiples archivos en un experimento de síntesis y secuenciación.; Se demostró una complejidad computacional reducida y rutinas de agrupación simplificadas a través de la canalización de preprocesamiento.

Conclusiones:

  • Pantheon-DNA aborda eficazmente la escalabilidad y la eficiencia en el almacenamiento de datos de ADN.; Los métodos propuestos mejoran la confiabilidad y recuperabilidad de los datos, validados por resultados experimentales.; El trabajo futuro se centrará en mejorar la corrección de errores, especialmente para la recuperación de indel, y optimizar el preprocesamiento.