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AAT Bioquest

What are the applications of short-read?

Posted June 4, 2024


Answer

Applications of short-read sequencing

Short-read sequencing has a wide range of applications in clinical settings and research studies. Some of the more notable applications of short-read sequencing include: 

  • Whole-Genome Sequencing (WGS): Comprehensive analysis of entire genomes for genetic variations, enabling identification of novel variations present in the genome
  • Whole-Exome Sequencing: Targeted sequencing of protein-coding regions to identify mutations related to diseases that may be present in the coding regions of genes
  • RNA Sequencing (RNA-seq): Analysis of transcriptomes to study gene expression and splicing variations
  • Gene Panel Sequencing: Sequencing specific sets of genes associated with particular diseases
  • Microbiome Analysis: Identification and quantification of microbial communities
  • Genetic Testing: Diagnosis of inherited disorders and carrier screening
  • Clinical diagnosis: Identification of genomic variations associated with particular diseases and used extensively in reproductive biology, cancer diagnostics, and pediatrics 
Additional resources

The application of long-read sequencing in clinical settings

Next Generation Sequencing (NGS)

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