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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 Medicine , United States , Chaozhong Liu , Michael Wangler , Jilla Rosenfeld , Sasidhar Pasupuleti , Shinya Yamamoto , Cole Deisseroth , Zhandong Liu , Hugo Bellen , Dongxue Mao , Priyank Shukla , Seon Young Kim , Pengfei Liu , Lindsayc Burrage , Victor Perez , Brendan Lee , Linhua Wang , Michael Santana , Christine Eng , Linyan Meng , National Institute Of Neurological Disorders , National Institutes Of Undiagnosed Diseases Network , Al Hussein Technical University , Dan Duncan Neurological Research Institute , Service Professor ,

Machine learning system offers new hope for 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 make the process more efficient using artificial intelligence. ....

Baylor College Of Medicine , United States , Seon Young Kim , Christine Eng , Linhua Wang , Dongxue Mao , Lindsayc Burrage , Priyank Shukla , Pengfei Liu , Sasidhar Pasupuleti , Chaozhong Liu , Hugo Bellen , Cole Deisseroth , Michael Wangler , Victor Perez , Zhandong Liu , Brendan Lee , Jilla Rosenfeld , Michael Santana , Linyan Meng , Shinya Yamamoto , Human Genome Sequencing Center At Baylor , Investigators At Baylor College Of Medicine , Dan Duncan Neurological Research Institute , National Institutes Of Undiagnosed Diseases Network , National Institute Of Neurological Disorders ,

Using AI to improve diagnosis of rare genetic

<p>Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using artificial intelligence. The team developed a machine learning system called AI-MARRVEL (AIM) to help prioritize potentially causative variants for Mendelian disorders. The study is published today in <em>NEJM AI</em>.</p>
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Baylor College Of Medicine , United States , Linhua Wang , Lindsayc Burrage , Pengfei Liu , Seon Young Kim , Victor Perez , Shinya Yamamoto , Michael Wangler , Chaozhong Liu , Priyank Shukla , Linyan Meng , Jilla Rosenfeld , Zhandong Liu , Brendan Lee , Christine Eng , Michael Santana , Sasidhar Pasupuleti , Dongxue Mao , Hugo Bellen , Cole Deisseroth , Dan Duncan Neurological Research Institute , Al Hussein Technical University , Service Professor , Investigators At Baylor College Of Medicine , National Institutes Of Undiagnosed Diseases Network ,

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 ....

Baylor College Of Medicine , United States , Lindsayc Burrage , Sasidhar Pasupuleti , Priyank Shukla , Michael Santana , Brendan Lee , Dongxue Mao , Michael Wangler , Cole Deisseroth , Linhua Wang , Shinya Yamamoto , Linyan Meng , Christine Eng , Hugo Bellen , Victor Perez , Chaozhong Liu , Seon Young Kim , Zhandong Liu , Jilla Rosenfeld , Pengfei Liu , National Institute Of Neurological Disorders , Al Hussein Technical University , Dan Duncan Neurological Research Institute , Human Genome Sequencing Center At Baylor , Chang Zuckerberg Initiative ,

The genomic architecture of inherited DNA var

<p>In a study that spans more than a decade, researchers at Baylor College of Medicine have looked at generations of families in a specific population to reveal the role newly inherited DNA variants play on recessive disease traits, and in the process, they have created a population specific database revealing unique DNA information unseen in larger cohorts.</p>
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United States , Baylor College Of Medicine , Franciscoc Ceballos , Salud Carlos , Claudia Mb Carvalho , Eric Boerwinkle , Jennifere Posey , Ender Karaca , Jamesr Lupski , Pengfei Liu , Yavuz Bayram , V Reid Sutton , Tugce Bozkurt Yozgatli , Tadahiro Mitani , Davut Pehlivan , David Valle , Richarda Lewis , Gregor Mendel , Donnam Muzny , Richarda Gibbs , Zeynep Coban Akdemir , Ada Hamosh , Tomasz Gambin , Nara Sobreira , Shalinin Jhangiani , Sanford Imagenetics ,