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1
Rare diseases affect over 300 million people globally.
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2
Long-read sequencing offers improved diagnostic yield.
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3
Four 'omes': genome, transcriptome, methylome, chromatin.
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4
Multi-omics provide a holistic view of disease mechanisms.
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5
Integrated testing can reveal unseen disease pathways.
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6
Advances in technology support streamlined testing approaches.
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7
Understanding genetic regulation is key to advancing rare disease research.
Original Source(s)
From Genome to Multi-ome
Why scientists should rethink rare disease investigation methods
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by Neil Ward
February 26, 2026
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7 min
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