Results 61 to 70 of about 2,882,218 (304)

Diagnostic applications of next generation sequencing: working towards quality standards [PDF]

, 2012
Over the past 6 years, next generation sequencing (NGS) has been established as a valuable high-throughput method for research in molecular genetics and has successfully been employed in the identification of rare and common genetic variations. All major
Klein, Hanns-Georg, Biskup, S., Vogl, Ina, Hirv, K., Greif, P.A., Kotschote, S., Gehring, A., Kuhn, M., Stuhrmann, Manfred, Bergmann, C., Eck, Sebastian H., Biskup, Saskia, Metzeler, Klaus H., Greif, Philipp A., Stuhrmann, M., Bolz, Hanno Joern, Benet-Pages, Anna, Hirv, Kaimo, Benet-Pagès, A., Klein, H.G., Vogl, I., Bolz, H.J., Kuhn, Marius, Kotschote, Stefan, Gehring, Andrea, Bergmann, Carsten, Metzeler, K.H., Eck, S.H.   +27 more
core   +1 more source

Whole exome sequence analysis of Peters anomaly [PDF]

Human Genetics, 2014
Peters anomaly is a rare form of anterior segment ocular dysgenesis, which can also be associated with additional systemic defects. At this time, the majority of cases of Peters anomaly lack a genetic diagnosis. We performed whole exome sequencing of 27 patients with syndromic or isolated Peters anomaly to search for pathogenic mutations in currently ...
Eric, Weh, Linda M, Reis, Hannah C, Happ, Alex V, Levin, Patricia G, Wheeler, Karen L, David, Erin, Carney, Brad, Angle, Natalie, Hauser, Elena V, Semina   +9 more
openaire   +2 more sources

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study

BMC Pediatrics
Background Genetic disorders significantly affect patients in neonatal intensive care units, where establishing a diagnosis can be challenging through routine tests and supplementary examinations.
Ruiping Zhang, Xiaoyu Cui, Yan Zhang, Huiqing Ma, Jing Gao, Ying Zhang, Jianbo Shu, Chunquan Cai, Yang Liu   +8 more
doaj   +1 more source

Whole-exome sequencing result.

, 2023
BackgroundNeurogenetic disorders (NGDs) are complex Mendelian disorders that affect the neurological system. A molecular diagnosis will provide more information about pathophysiology, prognosis, and therapy, including future genetic therapy options ...
Kania Diantika (17283553), Elisabeth Siti Herini (13949002), Andika Priamas Nugrahanto (17283550), Kristy Iskandar (225273), Marissa Leviani Hadiyanto (17283547), Agung Triono (14035002), Veronica Wulan Wijayanti (17283556)   +6 more
core   +1 more source

Opportunities and challenges of whole-genome and -exome sequencing [PDF]

BMC Genetics, 2017
Recent advances in the development of sequencing technologies provide researchers with unprecedented possibilities for genetic analyses. In this review, we will discuss the history of genetic studies and the progress driven by next-generation sequencing (NGS), using complex inflammatory bowel diseases as an example.
Britt-Sabina Petersen, Broder Fredrich, Marc P. Hoeppner, David Ellinghaus, Andre Franke   +4 more
openaire   +2 more sources

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source

SECNVs: A Simulator of Copy Number Variants and Whole-Exome Sequences From Reference Genomes

Frontiers in Genetics, 2020
Copy number variants are duplications and deletions of the genome that play an important role in phenotypic changes and human disease. Many software applications have been developed to detect copy number variants using either whole-genome sequencing or ...
Yue Xing, Yue Xing, Yue Xing, Alan R. Dabney, Xiao Li, Guosong Wang, Clare A. Gill, Claudio Casola   +7 more
doaj   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Comparison of Variant Calls from Whole Genome and Whole Exome Sequencing Data Using Matched Samples

, 2018
Whole exome sequencing (WES) has been extensively used in genomic research. As sequencing costs decline it is being replaced by whole genome sequencing (WGS) in large-scale genomic studies, but more comparative information on WES and WGS datasets would ...
Sigurgeirsson, B., Pradhananga, Sailendra, Lundeberg, Joakim,, Sahlén, Pelin, Pradhananga, Sailendra,, Sahlén, Pelin,, Sigurgeirsson, Benjamin,, Lundberg, J., Green, Henrik, Björn, Niclas,, Gréen, Henrik,, Björn, Niclas, Pradhananga, S., Sigurgeirsson, Benjamin, Lundeberg, Joakim, Sahlén, P   +15 more
core   +3 more sources