Results 21 to 30 of about 207,257 (328)

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

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

Clinical exome performance for reporting secondary genetic findings. [PDF]

, 2014
BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P, Fortina, Paolo, Kricka, Lj, Londin, E, Park, J. Y., Park, Jy, Sponziello, Marialuisa   +6 more
core   +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.
Jeffery M. Vance, Karen Nuytemans
openaire   +4 more sources

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

Development and performance of a targeted whole exome sequencing enrichment kit for the dog (Canis Familiaris Build 3.1) [PDF]

, 2014
Whole exome sequencing is a technique that aims to selectively sequence all exons of protein-coding genes. A canine whole exome sequencing enrichment kit was designed based on the latest canine reference genome (build 3.1.72).
Bavegems, Valérie, Broeckx, Bart, Coopman, Frank, De Keulenaer, Sarah, De Meester, Ellen, Deforce, Dieter, Van Nieuwerburgh, Filip, Verhoeven, Geert   +7 more
core   +2 more sources

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

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

Immune DNA signature of T-cell infiltration in breast tumor exomes. [PDF]

, 2016
Tumor infiltrating lymphocytes (TILs) have been associated with favorable prognosis in multiple tumor types. The Cancer Genome Atlas (TCGA) represents the largest collection of cancer molecular data, but lacks detailed information about the immune ...
Armisen, Ricardo, Carter, Hannah, Dow, Michelle, Gárate Calderón, Valentina, Harismendy, Olivier, Levy, Eric, Marty, Rachel, Woo, Brian   +7 more
core   +2 more sources

SavvyCNV: Genome-wide CNV calling from off-target reads.

PLoS Computational Biology, 2022
Identifying copy number variants (CNVs) can provide diagnoses to patients and provide important biological insights into human health and disease. Current exome and targeted sequencing approaches cannot detect clinically and biologically-relevant CNVs ...
Thomas W Laver, Elisa De Franco, Matthew B Johnson, Kashyap A Patel, Sian Ellard, Michael N Weedon, Sarah E Flanagan, Matthew N Wakeling   +7 more
doaj   +1 more source