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"Rare diseases'' may seem straightforward, affecting a small percentage of the population, although definitions of rarity differ globally. For instance, the U.S. defines these diseases as affecting fewer than 200,000 people, while the EU uses a prevalence criterion of fewer than 1 in 2,000. Additionally, rarity can be context-specific, varying across demographics and regions, emphasizing the intricate nature of these conditions.​

Are Rare Diseases Really Rare?

Articles

Rare diseases” may seem straightforward, affecting a small percentage of the population, although definitions of rarity differ globally. For instance, the U.S. defines rare diseases as affecting fewer than 200,000 people, while the EU uses a prevalence criterion of fewer than 1 in 2,000. Additionally, rarity can be context-specific, varying across demographics and regions, emphasizing the intricate nature of these conditions.

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AI-Driven NGS Data Analysis: A Variant Prioritization Pipeline for Precision Medicine

White Papers

“We present an innovative Next Generation Sequencing (NGS) data analysis feature in the SEQ Platform that integrates Artificial Intelligence (AI) to create a highly efficient variant prioritization pipeline with a 97% successful variant prioritization rate. This transformative solution will streamline diagnostic procedures and accelerate the discovery of clinically relevant genetic variants, enhancing the precision and…

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