Illumina unveils PromoterAI, a groundbreaking algorithm to accelerate insights for rare disease diagnosis
Illumina (NASDAQ: ILMN) has unveiled PromoterAI, a groundbreaking AI algorithm that accurately identifies pathogenic regulatory genetic variants in noncoding regions of the human genome. According to a study published in Science, this technology discovered regulatory variants in promoter segments that contribute up to 6% of genetic causes of rare diseases.
PromoterAI analyzes noncoding promoter regions, which are crucial for gene transcription and comprise over 98% of the genome. When combined with whole-genome sequencing (WGS), this AI tool could improve rare disease diagnosis rates, which currently stand at only 30% with exome sequencing. The algorithm, together with Illumina's other AI tools (PrimateAI-3D and SpliceAI), effectively doubles the diagnostic yield compared to using protein-truncating variants alone.
The technology is now available through Illumina Connected Software and DRAGEN鈩� secondary analysis, with precomputed scores freely available for academic and noncommercial research.
Illumina (NASDAQ: ILMN) ha presentato PromoterAI, un innovativo algoritmo di intelligenza artificiale in grado di identificare con precisione varianti genetiche regolatorie patogene nelle regioni non codificanti del genoma umano. Secondo uno studio pubblicato su Science, questa tecnologia ha individuato varianti regolatorie nei segmenti promotori che contribuiscono fino al 6% delle cause genetiche di malattie rare.
PromoterAI analizza le regioni promotrici non codificanti, fondamentali per la trascrizione genica e che rappresentano oltre il 98% del genoma. Integrato con il sequenziamento dell'intero genoma (WGS), questo strumento di intelligenza artificiale potrebbe migliorare i tassi di diagnosi delle malattie rare, attualmente solo al 30% con il sequenziamento dell'esoma. L'algoritmo, insieme agli altri strumenti AI di Illumina (PrimateAI-3D e SpliceAI), raddoppia efficacemente il rendimento diagnostico rispetto all鈥檜tilizzo esclusivo delle varianti proteiche troncatrici.
La tecnologia 猫 ora disponibile tramite Illumina Connected Software e l'analisi secondaria DRAGEN鈩�, con punteggi pre-calcolati liberamente accessibili per la ricerca accademica e non commerciale.
Illumina (NASDAQ: ILMN) ha lanzado PromoterAI, un innovador algoritmo de inteligencia artificial que identifica con precisi贸n variantes gen茅ticas regulatorias pat贸genas en regiones no codificantes del genoma humano. Seg煤n un estudio publicado en Science, esta tecnolog铆a descubri贸 variantes regulatorias en segmentos promotores que contribuyen hasta un 6% de las causas gen茅ticas de enfermedades raras.
PromoterAI analiza regiones promotoras no codificantes, cruciales para la transcripci贸n g茅nica y que comprenden m谩s del 98% del genoma. Combinado con el secuenciamiento del genoma completo (WGS), esta herramienta de IA podr铆a mejorar las tasas de diagn贸stico de enfermedades raras, que actualmente son solo del 30% con el secuenciamiento del exoma. El algoritmo, junto con otras herramientas de IA de Illumina (PrimateAI-3D y SpliceAI), duplica efectivamente el rendimiento diagn贸stico en comparaci贸n con el uso exclusivo de variantes truncantes de prote铆nas.
La tecnolog铆a est谩 ahora disponible a trav茅s de Illumina Connected Software y el an谩lisis secundario DRAGEN鈩�, con puntuaciones precomputadas disponibles gratuitamente para investigaci贸n acad茅mica y no comercial.
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Illumina (NASDAQ : ILMN) a d茅voil茅 PromoterAI, un algorithme d'intelligence artificielle r茅volutionnaire qui identifie avec pr茅cision les variants g茅n茅tiques pathog猫nes r茅gulateurs dans les r茅gions non codantes du g茅nome humain. Selon une 茅tude publi茅e dans Science, cette technologie a d茅couvert des variants r茅gulateurs dans les segments promoteurs qui contribuent jusqu'脿 6% des causes g茅n茅tiques des maladies rares.
PromoterAI analyse les r茅gions promotrices non codantes, essentielles 脿 la transcription des g猫nes et qui repr茅sentent plus de 98% du g茅nome. Combin茅 au s茅quen莽age du g茅nome entier (WGS), cet outil d'IA pourrait am茅liorer les taux de diagnostic des maladies rares, actuellement seulement de 30% avec le s茅quen莽age de l'exome. L'algorithme, associ茅 aux autres outils d'IA d'Illumina (PrimateAI-3D et SpliceAI), double efficacement le rendement diagnostique compar茅 脿 l'utilisation seule des variants tronquants prot茅iques.
La technologie est d茅sormais disponible via Illumina Connected Software et l'analyse secondaire DRAGEN鈩�, avec des scores pr茅-calcul茅s librement accessibles pour la recherche acad茅mique et non commerciale.
Illumina (NASDAQ: ILMN) hat PromoterAI vorgestellt, einen bahnbrechenden KI-Algorithmus, der pathogene regulatorische genetische Varianten in nichtkodierenden Bereichen des menschlichen Genoms pr盲zise identifiziert. Einer in Science ver枚ffentlichten Studie zufolge entdeckte diese Technologie regulatorische Varianten in Promotorsegmenten, die bis zu 6% der genetischen Ursachen seltener Krankheiten ausmachen.
PromoterAI analysiert nichtkodierende Promotorregionen, die f眉r die Gen-Transkription entscheidend sind und 眉ber 98% des Genoms umfassen. In Kombination mit der Ganzgenomsequenzierung (WGS) k枚nnte dieses KI-Werkzeug die Diagnosequoten seltener Krankheiten verbessern, die derzeit mit Exomsequenzierung nur bei 30% liegen. Der Algorithmus verdoppelt zusammen mit den anderen KI-Tools von Illumina (PrimateAI-3D und SpliceAI) effektiv die diagnostische Ausbeute im Vergleich zur ausschlie脽lichen Verwendung von protein-trunkierenden Varianten.
Die Technologie ist nun 眉ber Illumina Connected Software und die DRAGEN鈩� Sekund盲ranalyse verf眉gbar, wobei vorab berechnete Scores f眉r akademische und nichtkommerzielle Forschung kostenlos bereitgestellt werden.
- Revolutionary AI technology that can identify previously undetectable genetic variants in noncoding regions
- Potential to improve rare disease diagnosis rates beyond current 30% success rate
- Combined with other Illumina AI tools, doubles the diagnostic yield compared to traditional methods
- Free access to precomputed PromoterAI scores for academic and noncommercial research
- None.
Insights
Illumina's PromoterAI represents a significant advancement in genomic interpretation, potentially increasing rare disease diagnostic yields by 6%.
Illumina's newly unveiled PromoterAI algorithm marks a significant technological breakthrough in genomic interpretation. This deep learning-based tool specifically addresses a critical gap in rare disease diagnostics by analyzing the noncoding promoter regions of the genome - areas that comprise over
The science here is compelling. Currently, exome sequencing (which examines only protein-coding regions) provides diagnoses for approximately
What makes this development particularly notable is its integration with Illumina's existing AI suite. When combined with their previous tools (PrimateAI-3D and SpliceAI), the company claims diagnostic yield can be doubled compared to using protein-truncating variants alone. This represents a quantum leap in interpretive capabilities.
From a technical standpoint, promoters are crucial noncoding elements that control where gene transcription begins. Mutations in these regions can profoundly affect gene expression, even when the protein-coding sequences appear normal. By deciphering the impact of these variants, PromoterAI opens new diagnostic pathways.
The immediate availability of this algorithm through Illumina Connected Software and DRAGEN analysis, plus free academic access to precomputed scores, should accelerate adoption across research and clinical settings. This strategy reinforces Illumina's position as not just a sequencing hardware provider but an increasingly sophisticated bioinformatics company delivering end-to-end genomic solutions.
New AI algorithm accurately deciphers pathogenic regulatory genetic variants in the noncoding regions of the human genome at scale for the first time
Currently, only about
Promoters are key noncoding elements that define where transcription of a gene begins. When promoters are disrupted by genetic mutations, it can have profound consequences for downstream gene expression. The PromoterAI algorithm interprets the genetic sequence of promoters, thus opening the door to precise diagnoses for more patients with rare diseases.
"Illumina is breaking new ground with this AI technology," said Kyle Farh, MD, PhD, vice president, distinguished scientist, and head of the Illumina Artificial Intelligence Lab. "Combined with whole-genome sequencing, we believe PromoterAI holds the power to improve the rate of rare disease diagnosis by identifying previously overlooked variants in the noncoding genome. One of the challenges of searching for the genetic causes of rare disease is that, even if the protein-coding sequence of a gene is free from variants, mutations in that gene's promoter region can prevent it from being properly expressed."
Built on state-of-the-art deep learning neural networks, PromoterAI brings unprecedented precision to the interpretation of promoter variants. With PromoterAI applied to whole-genome sequencing (WGS) data analysis, clinical researchers are empowered to better understand the etiology and drug target potential for rare genetic diseases, common diseases, and oncology.
PromoterAI is the latest genomic AI algorithmic innovation from Illumina. In 2019, the Illumina Artificial Intelligence Lab released SpliceAI, a deep learning tool for interpreting noncoding cryptic splice mutations. In 2023, Illumina released PrimateAI-3D, which predicts the pathogenicity of protein-coding variants based on evolutionary conservation and protein structure. The study demonstrates that when used together,聽Illumina's AI classification prediction tools鈥擯romoterAI, PrimateAI-3D, and SpliceAI鈥攅ffectively double the diagnostic yield compared to using protein-truncating variants alone.聽
"PromoterAI is the latest addition to our AI and software portfolio, which has delivered leading quality, prediction accuracy, and comprehensiveness to turn data into valuable insights for our customers," said Rami Mehio, vice president, and global head of Software and Informatics.
PromoterAI will be accessible through Illumina Connected Software and it is available today as part of DRAGEN鈩� secondary analysis. Precomputed PromoterAI scores for all human promoter single-nucleotide variants are freely available for academic and noncommercial research use. Illumina Connected Software supports seamless integration with next-generation sequencing and array workflows for genomics and multiomics. Researchers, bioinformaticians, and clinical geneticists can use Illumina Connected Software to prioritize variants that are important to a case, gain critical insights, and accelerate their precision medicine dry lab operations.
Use of forward-looking statements
This release may contain forward-looking statements that involve risks and uncertainties. Among the important factors to which our business is subject that could cause actual results to differ materially from those in any forward-looking statements are: (i) challenges inherent in developing, manufacturing, and launching new products and services; (ii) customer uptake of, and satisfaction with, new products and services; and (iii) legislative, regulatory and economic developments, together with other factors detailed in our filings with the Securities and Exchange Commission, including our most recent filings on Forms 10-K and 10-Q, or in information disclosed in public conference calls, the date and time of which are released beforehand. We undertake no obligation, and do not intend, to update these forward-looking statements, to review or confirm analysts' expectations, or to provide interim reports or updates on the progress of the current quarter.
About Illumina
Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as a global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments. To learn more, visit 聽and connect with us on , , , , , and .
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