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Hybrid untargeted short-read and targeted long-read RNA sequencing facilitates genotype-phenotype associations at

Jiayi Wang1,2, Maria Constanza Maldifassi3,4, Anna Bratus-Neuenschwander5

  • 1Department of Molecular Life Sciences, University of Zurich, Zurich, Switzerland.

Genome Biology
|May 31, 2026
PubMed

Keywords:
Cell typingGenotype–phenotype integrationHybrid strategyLong-read scRNA-seqShort-read scRNA-seqTargeted sequencingVariant calling

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RNA-seq

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. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while microarray-based...