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The Rapid Expansion and Clinical Integration of Whole Exome Sequencing: Driving Precision Medicine and Genetic Diagnostics Globally

Whole Exome Sequencing (WES) has emerged as a cornerstone technology in the field of genomics, fundamentally transforming the landscape of genetic disease diagnosis and personalized medicine. By focusing on the protein-coding regions of the human genome—the exome, which constitutes approximately 1-2% of the entire genome but contains about 85% of known disease-causing mutations—WES offers a cost-effective and efficient alternative to Whole Genome Sequencing (WGS) for identifying genetic variants. The market growth is profoundly driven by the increasing prevalence of various complex and rare genetic disorders, for which traditional diagnostic methods are often time-consuming and inconclusive. Furthermore, advancements in sequencing technology, coupled with a drastic reduction in the cost per sequenced base over the past decade, have made WES increasingly accessible to clinical laboratories and research institutions worldwide. The growing global focus on precision…


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