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Home » Tools & Technology » Sequencing » RNA-Seq in Blood Cell Line Enables Molecular Diagnosis of Neurodevelopmental Disorders

RNA-Seq in Blood Cell Line Enables Molecular Diagnosis of Neurodevelopmental Disorders

Jan 08, 2020
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Julia Karow
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NEW YORK – Researchers at Children's Hospital of Philadelphia and Al Jalila Children's Specialty Hospital in Dubai have found that RNA sequencing in a cell line derived from blood can identify pathogenic variants in patients with neurodevelopmental disorders that were missed by DNA testing. 

The approach, which the researchers plan to develop into a clinical test, could complement diagnostic exome or genome sequencing. 

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