Results 11 to 20 of about 118,150 (263)

Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project[S]

Journal of Lipid Research, 2014
HDL-associated paraoxonase-1 (PON1) is an enzyme whose activity is associated with cerebrovascular disease. Common PON1 genetic variants have not been consistently associated with cerebrovascular disease.
Daniel Seung Kim, David R. Crosslin, Paul L. Auer, Stephanie M. Suzuki, Judit Marsillach, Amber A. Burt, Adam S. Gordon, James F. Meschia, Mike A. Nalls, Bradford B. Worrall, W.T. Longstreth, Jr., Rebecca F. Gottesman, Clement E. Furlong, Ulrike Peters, Stephen S. Rich, Deborah A. Nickerson, Gail P. Jarvik   +16 more
doaj   +1 more source

Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders

Frontiers in Genetics, 2023
Background: Genetic conditions contribute a significant portion of disease etiologies in children admitted to general pediatric wards worldwide. While exome sequencing (ES) has improved clinical diagnosis and management over a variety of pediatric ...
Maayan Kagan, Maayan Kagan, Maayan Kagan, Rotem Semo-Oz, Rotem Semo-Oz, Rotem Semo-Oz, Yishay Ben Moshe, Yishay Ben Moshe, Danit Atias-Varon, Irit Tirosh, Irit Tirosh, Irit Tirosh, Michal Stern-Zimmer, Michal Stern-Zimmer, Aviva Eliyahu, Aviva Eliyahu, Annick Raas-Rothschild, Annick Raas-Rothschild, Maayan Bivas, Maayan Bivas, Omer Shlomovitz, Omer Shlomovitz, Odelia Chorin, Odelia Chorin, Odelia Chorin, Rachel Rock, Rachel Rock, Rachel Rock, Michal Tzadok, Michal Tzadok, Bruria Ben-Zeev, Bruria Ben-Zeev, Gali Heimer, Gali Heimer, Gali Heimer, Yoav Bolkier, Yoav Bolkier, Noah Gruber, Noah Gruber, Noah Gruber, Adi Dagan, Adi Dagan, Adi Dagan, Bat El Bar Aluma, Bat El Bar Aluma, Bat El Bar Aluma, Itai M. Pessach, Itai M. Pessach, Itai M. Pessach, Gideon Rechavi, Gideon Rechavi, Gideon Rechavi, Ortal Barel, Ortal Barel, Ortal Barel, Ben Pode-Shakked, Ben Pode-Shakked, Ben Pode-Shakked, Ben Pode-Shakked, Yair Anikster, Yair Anikster, Yair Anikster, Asaf Vivante, Asaf Vivante, Asaf Vivante, Asaf Vivante   +65 more
doaj   +1 more source

Whole Exome Sequencing

Rinsho Shinkeigaku, 2010
Over the years there have been many different approaches and techniques that have been utilized to gather genetic information on family and patient data. Early on these focused on using family information and the pattern of inheritance of the disease in the family.
Karen, Nuytemans, Jeffery M, Vance
openaire   +3 more sources

A Paired RNAi and RabGAP Overexpression Screen Identifies Rab11 as a Regulator of β-Amyloid Production

Cell Reports, 2013
Alzheimer’s disease (AD) is characterized by cerebral deposition of β-amyloid (Aβ) peptides, which are generated from amyloid precursor protein (APP) by β- and γ-secretases. APP and the secretases are membrane associated, but whether membrane trafficking
Vinod Udayar, Virginie Buggia-Prévot, Rita L. Guerreiro, Gabriele Siegel, Naresh Rambabu, Amanda L. Soohoo, Moorthi Ponnusamy, Barbara Siegenthaler, Jitin Bali, AESG, Mikael Simons, Jonas Ries, Manojkumar A. Puthenveedu, John Hardy, Gopal Thinakaran, Lawrence Rajendran   +15 more
doaj   +1 more source

The Role and Challenges of Exome Sequencing in Studies of Human Diseases

Frontiers in Genetics, 2013
Recent advances in next-generation sequencing (NGS) technologies have transformed the genetics study of human diseases; this is an era of unprecedented productivity.
Zuoheng eWang, Xiangtao eLiu, Xiangtao eLiu, Bao-Zhu eYang, Joel eGelernter, Joel eGelernter   +5 more
doaj   +1 more source

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data

npj Genomic Medicine, 2022
Exome sequencing is utilized in routine clinical genetic diagnosis. The technical robustness of repurposing large-scale next-generation sequencing data for pharmacogenetics has been demonstrated, supporting the implementation of preemptive ...
Javier Lanillos, Marta Carcajona, Paolo Maietta, Sara Alvarez, Cristina Rodriguez-Antona   +4 more
doaj   +1 more source

Detection of Somatic Copy Number Alterations in Cancer Using Targeted Exome Capture Sequencing

Neoplasia: An International Journal for Oncology Research, 2011
The research community at large is expending considerable resources to sequence the coding region of the genomes of tumors and other human diseases using targeted exome capture (i.e., “whole exome sequencing”).
Robert J. Lonigro, Catherine S. Grasso, Dan R. Robinson, Xiaojun Jing, Yi-Mi Wu, Xuhong Cao, Michael J. Quist, Scott A. Tomlins, Kenneth J. Pienta, Arul M. Chinnaiyan   +9 more
doaj   +1 more source

Diagnostic value of partial exome sequencing in developmental disorders. [PDF]

PLoS ONE, 2018
Although intellectual disability is one of the major indications for genetic counselling, there are no homogenous diagnostic algorithms for molecular testing. While whole exome sequencing is increasingly applied, we questioned whether analyzing a partial
Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump   +19 more
doaj   +1 more source

SNES: single nucleus exome sequencing [PDF]

Genome Biology, 2015
AbstractSingle-cell genome sequencing methods are challenged by poor physical coverage and high error rates, making it difficult to distinguish real biological variants from technical artifacts. To address this problem, we developed a method called SNES that combines flow-sorting of single G1/0 or G2/M nuclei, time-limited multiple-displacement ...
Leung, Marco L, Wang, Yong, Waters, Jill, Navin, Nicholas E   +3 more
openaire   +2 more sources

Exome-assistant: a rapid and easy detection of disease-related genes and genetic variations from exome sequencing

BMC Genomics, 2012
Background Protein-coding regions in human genes harbor 85% of the mutations that are associated with disease-related traits. Compared with whole-genome sequencing of complex samples, exome sequencing serves as an alternative option because of its ...
Liu Qi, Shen Enjian, Min Qingjie, Li Xueying, Wang Xin, Li Xianfeng, Sun Zhong Sheng, Wu Jinyu   +7 more
doaj   +1 more source