Results 1 to 10 of about 357,319 (349)

Apert's syndrome: Study by whole exome sequencing [PDF]

Genes and Diseases, 2018
In the present study we attempted a parent–child trio, whole exome sequencing (WES) approach to study Apert's syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System that revealed the presence of ...
Anjana Munshi, Preeti Khetarpal, Satrupa Das, Venkateshwar Rao, Monica Valecha, Manita Bansal, Roshan Kumar   +6 more
doaj   +7 more sources

Whole-exome sequencing in pediatric patients with glomerulonephritis [PDF]

Frontiers in Genetics
IntroductionHigh-throughput sequencing methods revealed disease-causing and susceptibility genes underlying glomerulonephritis (GN). Genetic disorders mimicking GN may be diagnosed in this way. The aim of this study was to perform whole-exome sequencing (
Marina Peric, Marija Brankovic, Natasa Stajic, Jovana Putnik, Jovana Putnik, Aleksandra Paripovic, Aleksandra Paripovic, Milena Jankovic, Dejan Nikolic, Dejan Nikolic, Filip Milanovic, Filip Milanovic, Ivana Novakovic, Ivana Novakovic, Vladislav Vukomanovic, Vladislav Vukomanovic   +15 more
doaj   +5 more sources

Whole exome sequencing in the rat [PDF]

BMC Genomics, 2018
Background The rat genome was sequenced in 2004 with the aim to improve human health altered by disease and environmental influences through gene discovery and animal model validation.
Julie F. Foley, Dhiral P. Phadke, Owen Hardy, Sara Hardy, Victor Miller, Anup Madan, Kellie Howard, Kimberly Kruse, Cara Lord, Sreenivasa Ramaiahgari, Gregory G. Solomon, Ruchir R. Shah, Arun R. Pandiri, Ronald A. Herbert, Robert C. Sills, B. Alex Merrick   +15 more
doaj   +3 more sources

Whole-exome sequencing study of hypospadias

iScience, 2023
Summary: Hypospadias results from the impaired urethral development, which is influenced by androgens, but its genetic etiology is still unknown. Through whole exome sequencing analysis, we identified NR5A1, SRD5A2, and AR as mutational hotspots in the ...
Zhongzhong Chen, Yunping Lei, Richard H. Finnell, Yu Ding, Zhixi Su, Yaping Wang, Hua Xie, Fang Chen   +7 more
doaj   +4 more sources

Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors

Nature Communications, 2017
Identifying the mutational landscape of tumours from cell-free DNA in the blood could help diagnostics in cancer. Here, the authors present ichorCNA, software that quantifies tumour content in cell free DNA, and they demonstrate that cell-free DNA whole ...
Viktor A. Adalsteinsson, Gavin Ha, Samuel S. Freeman, Atish D. Choudhury, Daniel G. Stover, Heather A. Parsons, Gregory Gydush, Sarah C. Reed, Denisse Rotem, Justin Rhoades, Denis Loginov, Dimitri Livitz, Daniel Rosebrock, Ignaty Leshchiner, Jaegil Kim, Chip Stewart, Mara Rosenberg, Joshua M. Francis, Cheng-Zhong Zhang, Ofir Cohen, Coyin Oh, Huiming Ding, Paz Polak, Max Lloyd, Sairah Mahmud, Karla Helvie, Margaret S. Merrill, Rebecca A. Santiago, Edward P. O’Connor, Seong H. Jeong, Rachel Leeson, Rachel M. Barry, Joseph F. Kramkowski, Zhenwei Zhang, Laura Polacek, Jens G. Lohr, Molly Schleicher, Emily Lipscomb, Andrea Saltzman, Nelly M. Oliver, Lori Marini, Adrienne G. Waks, Lauren C. Harshman, Sara M. Tolaney, Eliezer M. Van Allen, Eric P. Winer, Nancy U. Lin, Mari Nakabayashi, Mary-Ellen Taplin, Cory M. Johannessen, Levi A. Garraway, Todd R. Golub, Jesse S. Boehm, Nikhil Wagle, Gad Getz, J. Christopher Love, Matthew Meyerson   +56 more
doaj   +2 more sources

The Application of Whole−Exome Sequencing in Patients With FUO [PDF]

Frontiers in Cellular and Infection Microbiology, 2022
BackgroundFever of unknown origin (FUO) is still a challenge for clinicians. Next-generation sequencing technologies, such as whole exome sequencing (WES), can be used to identify genetic defects in patients and assist in diagnosis.
Wanru Guo, Xuewen Feng, Ming Hu, Yanwan Shangguan, Jiafeng Xia, Wenjuan Hu, Xiaomeng Li, Zunjing Zhang, Yunzhen Shi, Kaijin Xu   +9 more
doaj   +3 more sources

Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing

Genes, 2021
Whole genome sequencing (WGS) is a powerful tool for postnatal genetic diagnosis, but relevant clinical studies in the field of prenatal diagnosis are limited. The present study aimed to prospectively evaluate the utility of WGS compared with chromosomal
Yaoshen Wang, Sun Luming, Zhou Xinyao
exaly   +2 more sources

Whole Exome Sequencing in Atrial Fibrillation.

PLoS Genetics, 2016
Atrial fibrillation (AF) is a morbid and heritable arrhythmia. Over 35 genes have been reported to underlie AF, most of which were described in small candidate gene association studies. Replication remains lacking for most, and therefore the contribution
Steven A Lubitz, Jennifer A Brody, Nathan A Bihlmeyer, Carolina Roselli, Lu-Chen Weng, Ingrid E Christophersen, Alvaro Alonso, Eric Boerwinkle, Richard A Gibbs, Joshua C Bis, NHLBI GO Exome Sequencing Project, L Adrienne Cupples, Peter J Mohler, Deborah A Nickerson, Donna Muzny, Marco V Perez, Bruce M Psaty, Elsayed Z Soliman, Nona Sotoodehnia, Kathryn L Lunetta, Emelia J Benjamin, Susan R Heckbert, Dan E Arking, Patrick T Ellinor, Honghuang Lin   +24 more
doaj   +6 more sources

Whole exome sequencing: Applications in Prenatal Genetics [PDF]

Obstetrics and Gynecology Clinics of North America, 2018
SYNOPSIS Prenatal whole exome sequencing (WES) has the potential to increase the ability to provide more diagnostic capabilities in fetuses with sonographic abnormalities which will then improve the ability to counsel families. It is also often the first
A. Jelin, N. Vora
semanticscholar   +2 more sources

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

New England Journal of Medicine, 2013
BACKGROUND Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patients with suspected genetic disorders. METHODS We developed technical, bioinformatic, interpretive, and validation pipelines for whole-exome ...
Yaping Yang, Zhiyv Niu, Jeffrey Reid
exaly   +2 more sources