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 ...
whole‐genome sequencing (WGSAs technological progress opens up undreamt of possibilities to analyze the human genome, it is vital to be aware of some basic principles about why and when to consider genetic testing in a patient. This chapter describes different applications of next-generation ...
Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between diagnostic and cost outcomes of WGS and WES in a cohort with suspected Mendelian disorders. WGS was...
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...
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 ...
Therefore, using whole-exome and whole-genome sequencing (WES and WGS, respectively), we aimed to identify novel PAVs and protein-truncating variants (PTVs, as putative loss-of-function variants) affecting serum lipid and lipoprotein measurements, complemented with serum nuclear magnetic resonance (...
Whole Genome Sequencing Whole Genome Sequencing (WGS) is rapidly becoming more affordable, and is a powerful tool to identify inherited disorders and mutations that drive cancer progression or for tracking disease risk.View Online > Custom Targeted Panels Next Gen Sequencing (NGS) target enrichment is...
In this review, we discuss the clinical potential of CNV identification in whole exome sequencing and whole genome sequencing data and the implications this has on diagnostic laboratories. 展开 关键词: clinical sequencing copy number variation next-generation sequencing structural variation ...
Exome Sequencing (Exome-Seq) presents an attractive alternative to Whole Genome Sequencing (WGS). With a specific focus on just the exome, which essentially refers to the coding region within a genome, Exome-Seq achieves ten times the coverage for a fraction of the cost (one fifth) compare...
Whole exome sequencing is a powerful tool to investigate genetic variations underlying cancers, Mendelian diseases, and complex human disorders.