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"Variant Interpretation Then and Now: Moving Toward Rigorous, Consistent Workflows"

Variant interpretation has come a long way since the days when single-gene or even single-variant tests represented the cutting-edge in clinical labs.

With the explosion of next-generation sequencing (NGS) and other multiplex-friendly technologies, variant analysts who could once easily perform manual review of every mutation, now face an onslaught of data.

This white paper outlines several approaches that clinical labs can take to improve the standardization and reproducibility of their variant interpretation pipelines.

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