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AI May Boost Diagnosis of Rare Genetic Disorders

Authors say AI-MARRVEL tool shows potential for primary diagnosis, reanalysis of unsolved cases, and discovery of novel disease genes.

United statesBaylor college of medicineDongxue maoDiseases networkMiraca holdings incHealthday newsAggregated resourcesRare variant explorationBaylor collegeUndiagnosed diseasesMiraca holdingsBaylor genetics

AI-MARRVEL: A leap forward in diagnosing genetic diseases with over 98% precision

The knowledge-driven MARRVEL AI-based model (AIM) to identify Mendelian illnesses.

Antiv shutterstockDisease networkDiseases networkModel organism aggregated resourcesRare variant explorationDiagnosing mendelianImage creditHuman phenotype ontologyUndiagnosed disease networkDeciphering developmental disordersUndiagnosed diseasesGenomiser trioArtificial intelligence

AI System Unveils New Approach to Rare Disease Diagnosis

Investigators at Baylor College of Medicine developed a new AI system called AI-MARRVEL (AIM) that helps doctors diagnose rare genetic diseases more quickly and accurately. The research was published in the journal NEJM AI.

Baylor college of medicineUnited statesPriyank shuklaZhandong liuLindsayc burrageVictor perezChristine engLinhua wangPengfei liuDongxue maoSeon young kimHugo bellenShinya yamamotoCole deisserothMichael santanaMichael wangler

Using AI to improve diagnosis of rare genetic disorders

Using AI to improve diagnosis of rare genetic disorders
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United statesBaylor college of medicineHugo bellenZhandong liuPengfei liuInvestigators at baylor college of medicineDan duncan neurological research instituteDiseases networkService professorBaylor collegeBaylor geneticsAggregated resourcesRare variant explorationUndiagnosed diseases networkDeciphering developmental disordersTexas children

Transdifferentiation with RNA sequencing aids diagnosis of genetic disorders

Transdifferentiation with RNA sequencing aids diagnosis of genetic disorders
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United statesShenglan liPengfei liuGenomics fellowship program at baylorDiseases networkResearchers at baylor college of medicineLaboratory geneticsBaylor collegeUndiagnosed diseases networkAmerican journalGenomics fellowship programUndiagnosed diseasesHuman genetics