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Several genes have been linked with tardive syndromes Aquino and Lang , and a large proportion of cases with cerebral palsy have a genetic cause McMichael et al.

Hum Mol Genet. Disease-targeted sequencing: a cornerstone in the clinic.

Deep Brain Stimulation for Dystonia: A Novel Perspective on the Value of Genetic Testing - PMC

The second axis addresses etiology with two dimensions relating to histopathological abnormalities or genetic contributions.

However, neither Medtronic nor any of the authors have any financial conflicts of interest relating to genetic testing.

Although DGPs are very new, they are superior to WES when considering their greater specificity and sensitivity for known genes.

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The mutations for many dystonia genes also are not shared but rather heterogeneous; and many arise de novo.

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WGS and WES provide more powerful and flexible solutions, but have some known limitations and generate large amounts of data that can be difficult to handle.

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Capable of contributing to discovery of new genes genes.

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Introduction

Scientific value of genetic testing As outlined above, there is immediate practical value for genetic testing in making a precise diagnosis for counseling regarding prognosis, and possibly for selecting surgical targets. Find close by. Even among experts, the syndromic approach is subject to error, Prostitutes Wittstock there is phenotypic overlap among genetically distinct subgroups, and atypical phenotypes may occur. Very heterogeneous and de Prostitutes Wittstock mutations are not suitable for GWAS. Although definitive conclusions for many of the combined dystonias are impossible because of the small numbers of cases, these observations provide Prostitutes Wittstock evidence that genetic factors influence outcomes.

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