Sequencing: The Next Generation—What Is the Role of Whole-Exome Sequencing in the Diagnosis of Familial Cardiovascular Diseases?[J] . Sali M.K. Farhan,Robert A. Hegele.Canadian Journal of Cardiology . 2013Sali M.K. Farhan,Robert A. Hegele.Sequencing: The Next Generation—What Is the ...
What is the role of DNA polymerase alpha? What is exome sequencing and what are its advantages/disadvantages over whole genome sequencing? What is the main function of the DNA polymerase III enzyme? What is the importance of mitochondrial DNA?
What is exome sequencing and what are its advantages/disadvantages over whole genome sequencing? What are the advantages and disadvantages of using genome-wide genetic assays and bioinformatics in the drug target identification process? What are the pros and cons of using...
all protein coding genes (exome) or the entire genome (whole genome sequencing, WGS), providing a complete survey of a person’s genetic make-up. For nearly two decades, geneticists have been comparing genomes, searching for the differences that might explain why only some people develop...
Sequencing of normal/tumor pairs is typically performed to identify the germline mutations, which the immune system would recognize as being normal. Due to the greater cost and complexity of whole exome sequencing, researchers are tu...
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Whole-exome sequencing (WES), which analyzes the coding sequence of most annotated genes in the human genome, is an ideal approach to studying fully penetr... M.?Chiara Manzin...
BACKGROUND: Abdominal aortic aneurysm (AAA) is a multi-factorial disease and its underlying pathogenesis remains poorly understood. AIM: We aim to search for the underlying etiology of AAA using whole exome sequencing and gene expression analysis. MATERIALS AND METHODS: We performed whole exome seq...
Whole-exome sequencing studies of nonfunctioning pituitary adenomas. J Clin Endocrinol Metab 2013; 98(4):E796-E800. Article CAS PubMed PubMed Central Google Scholar Bi WL, Horowitz P, Greenwald NF et al. Landscape of Genomic Alterations in Pituitary Adenomas. Clin Cancer Res 2017; 23(7):...
Should the results of whole genome sequencing research be disclosed to participants, in particular when the results have uncertain or indeterminate phenotypic consequences? This controversial question is considered in light of one author's (J.L.) experience as a geneticist who recently had his own ...
Impact of post-alignment processing in variant discovery from whole exome data GATK Best Practices workflows are widely used in large-scale sequencing projects and recommend post-alignment processing before variant calling. Two key po... S Tian,H Yan,M Kalmbach,... - 《Bmc Bioinformatics》 被引...