Clinical diagnostic whole genome sequencing in a paediatric population: experience from our WGS genetics clinic

Beyond the Genome 2012

生物科学;医药卫生

Elizabeth Worthey ; David Bick ; David Dimmock ; Mary Shimoyama

Others  :  http://www.biomedcentral.com/content/pdf/1753-6561-6-S6-O11.pdf
PID  :  26609

来源: CEUR

【 摘 要 】

We are in an unprecedented era where the genome of an individual can be sequenced in a day for low cost in a single sequencing run. The availability this information is changing and challenging the practice of medicine. At The Medical College of Wisconsin (MCW) we have been running a whole genome sequencing (WGS) based genetics clinic for over a year. WGS together with the processes and tools developed for analysis and interpretation are being used to identify disease-causing mutations in rare pediatric disorders in children being treated at our affiliated Children’s Hospital of Wisconsin. [Background]