Development of new technologies, including whole-genome sequencing (WGS) and whole-exome sequencing (WES), now allows the deciphering of acute leukemia genomes in ever greater detail. WGS and WES have proven their capacity to identify novel, clinically relevant genetic abnormalities (driver mutations...
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, ...
//.biomedcentral/1471-2105/15/247 RESEARCH ARTI CLE Open Access Variant detection sensitivity and biases in whole genome and exome sequencing Alison MMeynert * , Morad Ansari, David R FitzPatrick and Martin S Taylor Abstract Background: Less than two percent of the human genome is protein ...
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
The sheer volume of data generated from whole exome sequencing and whole genome sequencing presents a challenge for many researchers faced with the prospect of assembling and analyzing it. Whether you are working with whole genome, whole exome, or other targeted sequencing data, the resulting ...
Whole-genome sequencing delivers a comprehensive view, ideal for discovery applications. Newer genome sequencers perform WGS more rapidly than ever.
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 ...
Special Article © American College of Medical Genetics and Genomics Self-guided management of exome and whole-genome sequencing results: changing the results return model Joon-Ho Yu, MPH, PhD1, Seema M. Jamal, MSc1, Holly K. Tabor, PhD1,2 and Michael J. Bamshad, MD1,3 Researchers and...
Leveraging the ultrahigh-multiplex PCR approach ofIon AmpliSeq technologyand the superior accuracy of the newIon GeneStudio S5 Systems, theIon AmpliSeq Exome RDY Kitallows for rapid, accurate sequencing of key exonic regions of the genome, going from DNA to ...
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