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