Whitepaper

VarSome’s Implementation of ACMG Guidelines

By Tomas Kucera on August, 8 2019

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Tomas Kucera

Head of Business Development

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Next-generation Sequencing (NGS) is becoming increasingly more adopted by the clinical community as a primary tool for diagnostics and monitoring of many diseases, uncovering millions of variants previously unknown. However, the sheer quantity of NGS data presents challenges, especially in the interpretation of the clinical significance of genetic variation, and as such may have serious implications for treatment decisions and further medical outcomes. Thus, innovative analytical approaches are critical for scaling up the adoption and diagnostic yield of NGS-based methodology in clinical settings.

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