Using whole-genome sequencing (WGS) and whole-exome sequencing (WES), we evaluated the reproducibility of different sample types with varying input amount and tumor purity, and multiple library construction protocols, followed by processing with nine bioinformatics pipelines. We found that read ...
Zhiming Cai and colleagues report whole-genome and whole-exome sequencing of 99 paired tumor-normal samples of transitional cell carcinoma of the bladder. They find that 32% of tumors harbor alterations in genes involved in sister chromatid cohesion, inc
Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing-Derived Variants for Clinical Diagnosis. 2013:, 9.24.1-9.24.24. /Worthey, E.A., 2013. Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis. Curr. Protoc. Hum. Genet. 79 (...
Whole genome and exome sequencing of monozygotic twins discordant for Crohn' s disease. BMC Genomics 2014; 15: 564 [PMID: 24996980 DOI: 10.1186/1471-2164-15-564]Petersen BS, Spehlmann ME, Raedler A, Stade B, Thomsen I, Rabionet R, Rosenstiel P, Schreiber S, Franke A. Whole genome ...
This economic evaluation estimates the cost-effectiveness of whole-genome sequencing compared with whole-exome sequencing and conventional testing in
Whole exome sequencing (WES) investigates genetic variations of underlying diseases such as cancers, Mendelian diseases, and complex human disorders. This method targets protein-coding regions responsible for disease-related variants, providing a more cost-effective approach than whole genome sequencing (...
At least 100 human exome data sets can be uploaded to a single ArrayStar project for comparison. What types of files can I import for whole genome/whole exome sequencing analysis? ArrayStar supports the import ofSeqMan NGenassemblies (.assembly), files from other ArrayStar projects (.astar, ....
Whole genome sequencing (WGS) vs. Whole exome sequencing (WES) Whole genome sequencing (WGS)is used to determine the order of every single nucleotide in an individual’s genome. This is a powerful way to uncover genomic variation, including disease-associated mutations. However, sequencing entire...
Whole genome sequencing (WGS) is the comprehensive read and analysis of an entire genome, including non-coding regions of the genome.
Exome sequencing is a targeted sequencing approach that is restricted to the protein-coding regions of genomes. The exome is estimated to encompass approximately 1% of the genome, yet contains approximately 85% of disease-causing mutations [1]. For genetic researc...