"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?

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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 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

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“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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SEQ Platforms’s Extended Annotation: A Solution for Alternative Isoforms in NGS Data Analysis

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“Alternative splicing is a common and essential mechanism seen in ~94% of human genes. With our Extended Annotation feature, we provide ACMG classifications for all alternative isoforms. Extended Annotation feature provides clinically relevant alterations that can affect diagnosis and treatment in NGS data analysis.” Alternative splicing allows a single gene to produce multiple protein isoforms…

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