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Whole Exome Sequencing (WES) is an incredibly potent genomic technique. It zeroes in on sequencing the exonic regions—the portions of the genome that directly encode proteins. Now, while exons make up only 1-2% of the entire human genome, they pack a punch: these small segments contain roughly 85% of all known disease-causing mutations. This astonishing concentration of critical information makes WES a go-to method for pinpointing genetic variants that may be linked to inherited disorders or diseases that have a strong genetic basis. It's a remarkably efficient, and comparatively cost-effective, approach.

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  • Jan Erik Lorentzen
    Jan Erik Lorentzen