Results 91 to 100 of about 174,703 (205)

Whole‐exome sequencing as a diagnostic tool for distal renal tubular acidosis

Jornal de Pediatria (Versão em Português), 2015
Objective: Distal renal tubular acidosis (dRTA) is characterized by metabolic acidosis due to impaired renal acid excretion. The aim of this study was to demonstrate the genetic diagnosis of four children with dRTA through use of whole‐exome sequencing ...
Paula Cristina Barros Pereira, Flávia Medeiros Melo, Luiz Armando Cunha De Marco, Eduardo Araújo Oliveira, Débora Marques Miranda, Ana Cristina Simões e Silva   +5 more
doaj   +1 more source

Towards Better Understanding of Artifacts in Variant Calling from High-Coverage Samples [PDF]

, 2015
Motivation: Whole-genome high-coverage sequencing has been widely used for personal and cancer genomics as well as in various research areas. However, in the lack of an unbiased whole-genome truth set, the global error rate of variant calls and the ...
Li, Heng
core   +1 more source

Diagnostics of Primary Immunodeficiencies through Next Generation Sequencing

Frontiers in Immunology, 2016
Background: Recently, a growing number of novel genetic defects underlying primary immunodeficiencies (PID) have been identified, increasing the number of PID up to more than 250 well-defined forms.
Vera Gallo, Laura Dotta, Giuliana Giardino, Emilia Cirillo, Vassilios Lougaris, Roberta D'Assante, Alberto Prandini, Rita Consolini, Emily G. Farrow, Isabelle Thiffault, Carol Saunders, Antonio Leonardi, Alessandro Plebani, Raffaele Badolato, Claudio Pignata   +14 more
doaj   +1 more source

Whole exome sequencing analysis identifies genes for alcohol consumption

Nature Communications
Alcohol consumption is a heritable behavior seriously endangers human health. However, genetic studies on alcohol consumption primarily focuses on common variants, while insights from rare coding variants are lacking.
Jujiao Kang, Yue-Ting Deng, Bang-Sheng Wu, Wei-Shi Liu, Ze-Yu Li, Shitong Xiang, Liu Yang, Jia You, Xiaohong Gong, Tianye Jia, Jin-Tai Yu, Wei Cheng, Jianfeng Feng   +12 more
doaj   +1 more source

Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis

Kidney International Reports
Introduction: The incidence of pediatric nephrolithiasis has been increasing, and the role of genetic factors has garnered attention in recent years. This study aimed to explore the genetic basis underlying pediatric nephrolithiasis in Chinese population.
Xiaochuan Wang, Yining Zhao, Youquan Zhao, Minglei Li, Fangzhou Zhao, Boyu Yang, Hui Quan, Sujuan Zhao, Ye Tian, Hongquan Geng, Jun Li   +10 more
doaj   +1 more source

Whole-Exome Sequencing Study of Thyrotropin-Secreting Pituitary Adenomas [PDF]

, 2018
学位記番号 ...
Santosh, Sapkota, Santosh, Sapkota, サントス, サプコタ   +2 more
core  

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes [PDF]

, 2019
Objective: To expand the clinical spectrum of lysyl-tRNA synthetase (KARS) gene–related diseases, which so far includes Charcot-Marie-Tooth disease, congenital visual impairment and microcephaly, and nonsyndromic hearing impairment.
Antonellis, Anthony, Donaldson, Kevin, Emrick, Lisa, Gao, Mingshi, Hou, Ya-Ming, Jiang, Yanjun, Lalani, Seema R., Landsverk, Megan L., Lee, Sansan, Lewis, Andrea M., Li, Meixia, Li, Yuxin, Lin, Jie, Lu, Jiahong, Luo, Sushan, Magoulas, Pilar L., Mei, Hui, Niu, Zhiyv, Oprescu, Stephanie N., Person, Richard E., Rosenfeld, Jill A., Slavin, Thomas P., Song, Jie, Sun, Chong, Walkiewicz, Magdalena, Wang, Yin, Xi, Jianying, Yang, Yaping, Zhang, Victor W., Zhao, Chongbo   +29 more
core   +1 more source

Integrated Whole Exome and Transcriptome Sequencing in Cholesterol Metabolism in Melanoma: Systematic Review

Sudan Journal of Medical Sciences
Background: Melanoma is a highly malignant form of skin cancer that exhibits remarkable metabolic adaptability. Melanoma cells exhibit the capacity to adapt to specific conditions of the tumor microenvironment through the utilization of diverse energy ...
Mohammed Mahmoud Nour Eldin, Wesam Ahmed Nasif, Amr Ahmed Amin, GadAllah Modawe, Abdullatif Taha Babakr   +4 more
doaj   +1 more source

Novel characterization of CASK variant c.1963 A>G (p.Asn655Asp) through whole-exome sequencing in a monochorionic diamniotic twin fetus with significant brain anomalies: A case report

Case Reports in Women's Health
Whole-exome sequencing is an evolving technology in perinatal diagnosis which allows identification of genetic etiologies that would otherwise go undetermined.
Nathan A. Keller, Luis A. Bracero, Insaf Kouba, Abigail Steinberg, Jolene Muscat, David Bergman   +5 more
doaj   +1 more source

Identification of Single Nucleotide Changes in Genes Associated to Muscle Hypertrophy and Strength in an Elite Weightlifter Using Whole Exome Sequencing: A Case Report

Journal of Ardabil University of Medical Sciences, 2020
Background & objectives: Over the last couple of decades, research has focused on attempting to understand the genetic influence on sports performance. Whole exome sequencing (WES) has great potential to explore all possible genetic variants associated ...
Bahman Ebrahimi-Torkamani, Marefat Siahkouhian, Ali khazani, Anoshirvani Sajad, Bolboli Lotfali, Maryam Asadi   +5 more
doaj