Overview of the Clinical Utility of Next Generation Sequencing in Molecular Diagnoses of Human Genetic Disorders

2017 ◽  
pp. 1-11
Author(s):  
Lee-Jun C. Wong
Keyword(s):  
Next Generation Sequencing ◽  
Clinical Utility ◽  
Genetic Disorders ◽  
Next Generation ◽  
Human Genetic Disorders ◽  
Generation Sequencing

Routine next generation sequencing of lymphoid malignancies: clinical utility and challenges from a 3-Year practical experience

2020 ◽  
Vol 61 (11) ◽  
pp. 2568-2583 ◽  
Author(s):  
Vincent Pillonel ◽  
Darius Juskevicius ◽  
Michel Bihl ◽  
Frank Stenner ◽  
Jörg P. Halter ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Clinical Utility ◽  
Practical Experience ◽  
Next Generation ◽  
Lymphoid Malignancies ◽  
Generation Sequencing

scholarly journals The clinical utility of next-generation sequencing for identifying chromosome disease syndromes in human embryos

2015 ◽  
Vol 31 (1) ◽  
pp. 62-70 ◽  
Author(s):  
Junmei Fan ◽  
Li Wang ◽  
Hui Wang ◽  
Minyue Ma ◽  
Shufang Wang ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Clinical Utility ◽  
Human Embryos ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence

Brain ◽  
2019 ◽  
Vol 143 (3) ◽  
pp. 751-770 ◽  
Author(s):  
Hugo Morales-Briceño ◽  
Shekeeb S Mohammad ◽  
Bart Post ◽  
Alessandro F Fois ◽  
Russell C Dale ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Movement Disorders ◽  
Early Onset ◽  
Genetic Disorders ◽  
Phenotypic Characterization ◽  
Imaging Features ◽  
Next Generation ◽  
Phenotypic Spectrum ◽  
Inherited Mutations ◽  
Generation Sequencing

Abstract Genetic early-onset parkinsonism presenting from infancy to adolescence (≤21 years old) is a clinically diverse syndrome often combined with other hyperkinetic movement disorders, neurological and imaging abnormalities. The syndrome is genetically heterogeneous, with many causative genes already known. With the increased use of next-generation sequencing in clinical practice, there have been novel and unexpected insights into phenotype-genotype correlations and the discovery of new disease-causing genes. It is now recognized that mutations in a single gene can give rise to a broad phenotypic spectrum and that, conversely different genetic disorders can manifest with a similar phenotype. Accurate phenotypic characterization remains an essential step in interpreting genetic findings in undiagnosed patients. However, in the past decade, there has been a marked expansion in knowledge about the number of both disease-causing genes and phenotypic spectrum of early-onset cases. Detailed knowledge of genetic disorders and their clinical expression is required for rational planning of genetic and molecular testing, as well as correct interpretation of next-generation sequencing results. In this review we examine the relevant literature of genetic parkinsonism with ≤21 years onset, extracting data on associated movement disorders as well as other neurological and imaging features, to delineate syndromic patterns associated with early-onset parkinsonism. Excluding PRKN (parkin) mutations, >90% of the presenting phenotypes have a complex or atypical presentation, with dystonia, abnormal cognition, pyramidal signs, neuropsychiatric disorders, abnormal imaging and abnormal eye movements being the most common features. Furthermore, several imaging features and extraneurological manifestations are relatively specific for certain disorders and are important diagnostic clues. From the currently available literature, the most commonly implicated causes of early-onset parkinsonism have been elucidated but diagnosis is still challenging in many cases. Mutations in ∼70 different genes have been associated with early-onset parkinsonism or may feature parkinsonism as part of their phenotypic spectrum. Most of the cases are caused by recessively inherited mutations, followed by dominant and X-linked mutations, and rarely by mitochondrially inherited mutations. In infantile-onset parkinsonism, the phenotype of hypokinetic-rigid syndrome is most commonly caused by disorders of monoamine synthesis. In childhood and juvenile-onset cases, common genotypes include PRKN, HTT, ATP13A2, ATP1A3, FBX07, PINK1 and PLA2G6 mutations. Moreover, Wilson’s disease and mutations in the manganese transporter are potentially treatable conditions and should always be considered in the differential diagnosis in any patient with early-onset parkinsonism.

Clinical utility of profiling somatic alterations in Indian cancer patients using a multi-gene next generation sequencing (NGS) test.

2015 ◽  
Vol 33 (15_suppl) ◽  
pp. e22127-e22127
Author(s):  
Urvashi Bahadur ◽  
Aarthi Ravichandran ◽  
Shataparna Banerjee ◽  
Shreya Paliwal ◽  
Roopa Rayanur Sripathi ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Cancer Patients ◽  
Clinical Utility ◽  
Next Generation ◽  
Somatic Alterations ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Clinical utility of reflex testing using focused next generation sequencing for management of patients with advanced lung adenocarcinoma.

2018 ◽  
Vol 36 (15_suppl) ◽  
pp. e24199-e24199
Author(s):  
Navid Sadri ◽  
Tyler E Miller ◽  
Michael Yang ◽  
Afshin Dowlati ◽  
Judah D. Friedman ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Lung Adenocarcinoma ◽  
Clinical Utility ◽  
Next Generation ◽  
Reflex Testing ◽  
Generation Sequencing

scholarly journals The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program

2016 ◽  
Vol 26 (1) ◽  
pp. 105-112 ◽  
Author(s):  
A. E. Bunnell ◽  
C. A. Garby ◽  
E. J. Pearson ◽  
S. A. Walker ◽  
L. E. Panos ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Cancer Risk ◽  
Hereditary Cancer ◽  
Clinical Utility ◽  
Next Generation ◽  
Community Based ◽  
Generation Sequencing
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