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From Genome to Multi-ome

Why scientists should rethink rare disease investigation methods

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Rare diseases, affecting over 300 million people globally, often remain undiagnosed despite extensive genetic testing. Conventional methods struggle with complex structural variations, but long-read whole-genome sequencing offers a breakthrough. By capturing more genetic information, this technology enhances diagnostic yield, identifying conditions previously deemed unresolvable. To deepen understanding, a multi-omic approach—integrating the genome, transcriptome, methylome, and chromatin epigenome—is crucial, as it addresses the interplay of genetic regulation and expression in disease outcomes, promising new insights for research and clinical practice.

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From Genome to Multi-ome

Why scientists should rethink rare disease investigation methods

  • by Neil Ward

  • February 26, 2026

  • 7 min

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