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 K-CELL K-CELL test refers to the use of thousands of cells for whole exome sequencing (WES), transcriptome sequencing (RNA-seq) and other omics detection and analysis, so as to evaluate the information related to clinical medication guidance....
The recent development of high throughput methods of deoxyribonucleic acid (DNA) sequencing has made it possible to determine individual genome sequences and their specific variations. A region of particular interest is the protein-coding part of the genome, or exome, which is composed of gene exo...
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 usin...
New genomic technologies allow researchers to rapidly and inexpensively sequence large gene panels, 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 compa...
Genomic comparison of esophageal squamous cell carcinoma and its precursor lesions by multi-region whole-exome sequencing Nat. Commun., 8 (1) (2017), p. 524 Google Scholar [67] K. Wang, et al. Comprehensive genomic profiling of advanced Esophageal squamous cell carcinomas and Esophageal adenoca...
(ATA) in population whole-exome sequencing data.#For the 61 RET mutations, we used analyses of the observed allele frequencies in 51,000 individuals from the Exome Aggregation Consortium (ExAC) database that were not contributed via The Cancer Genome Atlas (TCGA; non-TCGA ExAC), assuming ...
This first issue of Neurology Genetics is out and it reflects very well the diversity of today's genetics. The approaches employed range from genome-wide association studies(1) to whole-exome sequencing (WES)(2-5) and targeted resequencing of a single gene.(6) One study examines the effects...
Next generation or massively parallel sequencing (NGS) (6) is also becoming routine in the clinical laboratory for targeted whole-gene, exome, and genome sequencing. The amount of data generated by these analyses is unprecedented and requires a sophisticated knowledge of bioinformatics for the ...
Whole exome sequencing (WES) is a widely used tool in clinical genomics and has become an attractive approach of variant detection in genetic conditions with suspected genetic etiology stemming from protein-coding DNA in the genome. Targeted sequencing of the suspected exons of protein-coding regions...