Despite rapid advances in genetic testing in recent decades, more than half of people worldwide with suspected Mendelian genetic disorders do not have an accurate molecular diagnosis. Others endure more than six years of tests before a diagnosis is given.
Sequencing technique searches for complex genomic variants to provide accurate diagnosis within hours retrieved 23 July 2024 from https://medicalxpress.com/news/2024-07-sequencing-technique-complex-genomic-variants.html
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