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Keeping up With the Genomes: Scaling Clinical Variant Interpretation in the Era of Precision Medicine

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"Keeping up With the Genomes: Scaling Clinical Variant Interpretation in the Era of Precision Medicine"

As next-generation sequencing (NGS) technology advances, tremendous pressure is being placed on existing variant interpretation pipelines. Can your lab keep up?

Clinical genetics has progressed remarkably in the last decade, moving rapidly from genotyping selected mutations to whole exome sequencing (WES) and whole genome sequencing (WGS). Improvements in technology and analysis capabilities, accompanied by reduced costs, have revolutionized genomics, enabling one to pinpoint relevant genetic variations within millions of variants in sequenced patients. These advances have extraordinary impact on medical care and clinical diagnostics.


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