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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.

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Using AI to improve diagnosis of rare genetic disorders

Using AI to improve diagnosis of rare genetic disorders
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Baylor college of medicineUnited statesHugo bellenDongxue maoPengfei liuCole deisserothChristine engLinhua wangMichael santanaSasidhar pasupuletiChaozhong liuMichael wanglerShinya yamamotoVictor perezJilla rosenfeldLindsayc burrage

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

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to.

United statesTexas medical centerBaylor college of medicineBrendan leeChristine engMolly chiuMichael santanaLindsayc burrageSeon young kimZhandong liuSasidhar pasupuletiMichael wanglerLinhua wangShinya yamamotoPengfei liuCole deisseroth

Using AI To Improve Diagnosis Of Rare Genetic Disorders

Using AI To Improve Diagnosis Of Rare Genetic Disorders
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Baylor college of medicineUnited statesChaozhong liuMichael wanglerJilla rosenfeldSasidhar pasupuletiShinya yamamotoCole deisserothZhandong liuHugo bellenDongxue maoPriyank shuklaSeon young kimPengfei liuLindsayc burrageVictor perez