Whole-exome sequencing enables the discovery and assessment of genetic variations linked to rare or complex diseases and is a key tool for the diagnosis of genetic disease, population genome studies, and tumor-normal sequencing protocols used in precision oncology. Although the exome only represents about one percent of the human genome, mutations in these protein-coding regions are highly associated with disease.
New advancements in next-generation sequencing and artificial intelligence technologies now allow research beyond clinical diagnosis as WES can also help inform and improve drug discovery, personalized medicine, and reproductive health.
This application note from Singular Genomics presents whole-exome sequencing data generated using the G4, a novel benchtop sequencing platform that enables cost-efficient delivery of eight to 64 exome samples in 16 to 19 hours and fits into existing whole-exome sequencing and analysis workflows.
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