OmicsDI
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2026
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2021
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Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes.
Not available
S-EPMC12909342
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biostudies-literature
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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Not available
S-EPMC8546233
|
biostudies-literature
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OmicsDI
is part of the ELIXIR infrastructure
OmicsDI is an Elixir interoperability service.
Learn more ›
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