The Missing Pieces of the Marmoset Genome

Researchers resolve previously inaccessible regions linked to immunity, disease modeling, and variant analysis

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Researchers assembled a complete common marmoset genome, resolving previously missing or incorrectly represented regions.
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The new genome reference added over 88 million bases of unresolved sequences, improving genomic analysis in disease research.
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The study identified 21,121 protein-coding genes and 566 new transcript models supported by long-read RNA sequencing.
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Of 81 human loci associated with Alzheimer's disease, 76 had candidate marmoset counterparts, with coding variation detected in 75.
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A preliminary marmoset pangenome covering six haplotypes was produced, but it requires further validation for variant discovery.

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