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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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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
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Clair3-RNA: un llamador de variantes basado en aprendizaje profundo para datos de secuenciación de ARN de lectura

Zhenxian Zheng1, Xian Yu1, Lei Chen1

  • 1School of Computing and Data Science, University of Hong Kong, Hong Kong, China.

Nature communications
|December 22, 2025
PubMed
Resumen

Clair3-RNA es una nueva herramienta de aprendizaje profundo para la llamada de variantes de secuenciación de ARN de lectura larga. Mejora la precisión en plataformas como PacBio y ONT, permitiendo un mejor análisis de la expresión génica.

Palabras clave:
secuenciación de ARN de lectura largallamada de variantesaprendizaje profundoPacBioONTanálisis de expresión génicaClair3-RNA

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