Whole‐exome sequencing for variant discovery in blepharospasm
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چکیده
منابع مشابه
File S1 for Predicting variant discovery rates in sequencing studies
Jackknifes and naive linear bounds We can obtain both upper and lower bounds for the number of undiscovered variants by linear combinations of the φ(d). To do this, we note that the equations for the number of missed variants
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Ten patients who were unable to initiate or sustain eye opening in the absence of overt spasm of the orbicularis oculi, were investigated. In five, the problem was isolated. Three had Parkinson's disease and two progressive supra-nuclear palsy for between one to six years before the eye opening difficulty developed. The clinical features and electrophysiological investigation suggested that the...
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1Neurology Service of Hospital das Nações, Curitiba PR, Brazil; 2Movement Disorders Unit, Neurology Service, Federal University of Paraná (UFPR), Curitiba PR, Brazil. Correspondence: Giorgio Fabiani; Rua Raphael Papa 10; 82530-190 Curitiba PR Brasil; E-mail: [email protected] / [email protected] Conflict of interest: There is no conflict of interest to declare. Received 19 Dece...
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FamAnn is an automated variant annotation pipeline designed for facilitating target discovery for family-based sequencing studies. It can apply a different inheritance pattern or a de novo mutations discovery model to each family and select single nucleotide variants and small insertions and deletions segregating in each family or shared by multiple families. It also provides a variety of varia...
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PURPOSE Normal-tension glaucoma (NTG) is a disease of late onset, complex trait with multiple risk factors. In this study, we discovered a mitochondrial DNA variant in NTG patients using next-generation sequencing (NGS). METHODS The DNA was extracted from the peripheral blood of NTG patients and normal control subjects. Sequencing of the entire mitochondrial DNA (mtDNA) using NGS revealed new...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2018
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.411