The human genome project was a ground-breaking scientific endeavour that not only gave us a near complete map of our genetic code but also paved the way for new innovative sequencing technologies and computational methods that have enabled the clinical application of genomics [1,2,3,4]. While ...
2011. Whole genome sequencing in clinical practice: The first year. Abstract # 1068 12th International Congress of Human Genetics/61st Annual Meeting of The American Society of Human Genetics. Montreal, Canada.
Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time Technological advances often outpace our ability to effectively use them, a situation that certainly could pertain to modern genomics. Breathtaking advances in genetic sequencing technology ha...
One such development is the application of whole genome sequencing (WGS) as a diagnostic tool. The use of WGS in clinical practice carries with it the promise of personalized medicine, which will likely enable more efficient care and tailored prevention. However, the complexity and sheer amount ...
It was also found that whole-genome sequencing is a more comprehensive test than other tests currently used in clinical practice. Low-depth whole-genome sequencing assays had similar detection rates for microscopic copy number variants as karyotyping, anddetected an additional 2.3%of submicros...
Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genesMore than 1100 genetic loci have been correlated with drug response outcomes but disproportionately few have been translated into clinical practice. One explanation for the low rate of clinical implementation is that...
The current issue of Neurology® Genetics emphasizes the unparalleled role of next-generation sequencing (NGS) in defining an expanding spectrum of genetic neurologic disorders. Clinically, NGS encompasses the use of large gene panels, whole-exome sequencing (WES), or whole-genome sequencing (WGS)...
Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time Genet Med. 2011 Jun;13(6):499-504. doi: 10.1097/GIM.0b013e318220aaba. Editorial JS Berg,MJ Khoury,JP Evans - 《Genetics in Medicine Official Journal of the American College ...
Current laboratory methods for the detection and surveillance of antimicrobial resistant bacteria are limited in their effectiveness and scope. With the rapidly developing field of whole genome sequencing beginning to be utilised in clinical practice, the ability to interrogate sequencing data quickly and ...
It was also found that whole-genome sequencing is a more comprehensive test than other tests currently used in clinical practice. Low-depth whole-genome sequencing assays had similar detection rates for microscopic copy number variants as karyotyping, and detected an additional 2.3% of submicroscopic ...