Whereas genome-wide association studies have implicated previously unknown genes and pathways in T2D pathogenesis, sequencing studies aim to further identify causal variants and mechanisms, build improved clinical risk models, and more fully characterize T2D genetic architecture....
In the global whole genome and exome sequencing market, as of 2023, the kits segment holds the largest share at 62.83%. This dominance can be attributed to the essential role kits play in the sequencing process, ...
This economic evaluation estimates the cost-effectiveness of whole-genome sequencing compared with whole-exome sequencing and conventional testing in
PacBio whole genome sequencing now has the potential to begin upending the decade-long dominance of short-reads in genomic medicine.
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
Whole genome sequencing in addition to these advantages also offers the potential to characterize CNVs to unprecedented levels of accuracy, providing position and orientation information. In this review, we discuss the clinical potential of CNV identification in whole exome sequencing and whole genome ...
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 (...
“With whole-exome sequencing there is less data to transfer, analyze, and interpret, which is an important consideration, and it’s more cost-effective with a faster turnaround time.” –Dr. Christian Marshall, Research Associate, The Hospital for Sick C...
Learn about whole exome sequencing (WES), a targeted next generation sequencing method that identifies all the protein-coding genes (exons) in the genome.
Less than two percent of the human genome is protein coding, yet that small fraction harbours the majority of known disease causing mutations. Despite rapidly falling whole genome sequencing (WGS) costs, much research and increasingly the clinical use of