Downstream Assays for Variant Resolution: Epigenetics, RNA Sequnncing, and Metabolomics
BJ Shayota - Pediatric Clinics, 2023 - pediatric.theclinics.com
Over the past 2 decades, advances in genetic testing methods and the growing availability
of such tests to the general population has been met with a shift in how physicians provide
personalized medical care to patients. It was only in 2004 that the Human Genome Project
first sequenced 99% of the human genome at a cost of nearly $3 billion. Since then, several
advances, including next-generation sequencing, have led to a precipitous drop in costs,
opening the way for expansive testing methods such as gene panels, whole exome …
of such tests to the general population has been met with a shift in how physicians provide
personalized medical care to patients. It was only in 2004 that the Human Genome Project
first sequenced 99% of the human genome at a cost of nearly $3 billion. Since then, several
advances, including next-generation sequencing, have led to a precipitous drop in costs,
opening the way for expansive testing methods such as gene panels, whole exome …
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