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Medicine

Genomics of Rare Diseases in Clinical Diagnostics

Quick fact

For rare diseases, whole-exome sequencing identifies a causative mutation in only about 25–30% of patients, meaning most patients still end their diagnostic odyssey without a molecular explanation.

Why this is interesting

When a child is born with a mysterious syndrome, it can take years—and dozens of wrong guesses—before a diagnosis is found. But sometimes, the answer is hiding in a single letter of the human genome.