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Comment & Response |

Next-Generation Phenotyping and Genomic Incidental Findings Beyond the Parkin Example

Marco Canevelli, MD1; Alessandro Blasimme, MA, PhD2
[+] Author Affiliations
1Department of Neurology and Psychiatry, Memory Clinic, University Sapienza, Rome, Italy
2INSERM UMR 1027, Université de Toulouse III, Paul Sabatier, Faculté de Médicine, Toulouse, France
JAMA Neurol. 2013;70(12):1589. doi:10.1001/jamaneurol.2013.4521.
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To the Editor A recent study1 in JAMA Neurology advanced the notion of next-generation phenotyping. Grünewald et al1 systematically evaluated the quality of published genetic and phenotypic data concerning parkin-associated Parkinson disease cases by adopting an ad-hoc score combining both genetic and clinical criteria. Interestingly, they found that while the quality of genetic analyses continuously increased over the last 15 years, the quality of retained clinical data stayed stable over time. Therefore, they proposed mandatory minimal criteria aimed at improving data acquisition and reporting in genotype-phenotype correlation studies. This is of crucial interest in both research and clinical settings in neurology as well as in all other medical domains.


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December 1, 2013
Meike Kasten, MD; Anne Grünewald, PhD; Christine Klein, MD
1Institute of Neurogenetics, University of Lübeck, Lübeck, Germany2Department of Psychiatry and Psychotherapy, University of Lübeck, Lübeck, Germany
1Institute of Neurogenetics, University of Lübeck, Lübeck, Germany
JAMA Neurol. 2013;70(12):1590-1591. doi:10.1001/jamaneurol.2013.4812.
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