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Illumina Unveils Promoterai, a Groundbreaking Algorithm to Accelerate Insights for Rare Disease Diagnosis

Summary by AiThority
Illumina Inc..today unveiled PromoterAI, a new AI algorithm that accurately deciphers pathogenic regulatory genetic variants in the noncoding regions of the human genome. A study published today in Science illustrates how this deep learning technology discovered regulatory variants in noncoding “promoter” segments that contribute up to 6% of the genetic causes of rare diseases. By turning data into insights, this technology is expected to help r…
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AiThority broke the news in on Friday, May 30, 2025.
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