Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.

Lord J., Pagnamenta AT., Vestito L., Walker S., Oquendo CJ., McGuigan AE., Ho A., Odhams C., Jacobsen JO., Mehta S., Reid E., O'Driscoll M., Watson CM., Crinnion LA., Robinson RL., Musgrave H., Martin RJ., James TP., Ross MT., Kyritsi M., Carnielli L., Walker N., Vucenovic D., Maheswari U., Baralle FE., Taylor JC., Ellingford JM., Kasperaviciute D., Hoa L., Elgar G., Brown MA., Smedley D., Baralle D.

DOI

10.64898/2026.03.19.26348811

Type

Preprint

Publication Date

2026-03-23T00:00:00+00:00

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