We spoke to Dr. Carlos Prada, Assistant Professor of Clinical Genetics at Cincinnati Children’s Hospital Medical Center within the University of Cincinnati Department of Pediatrics, and Dr. Emma Clement, Consultant in Clinical Genetics at Great Ormond Street Hospital in the UK, to find out how more about the challenges of implementing NGS globally, and where that implementation has been successful.
The advancement of sequencing technology has had the singe biggest effect on genomics research. As it develops further, so does the scope of genomic research and applications.
Dr. Jonathan Rothberg is a man who needs little introduction, and is now receiving the Association of Molecular Pathology’s (AMP) Award for Excellence in Molecular Diagnostics Services. We spoke to him about his many achievements, his proudest moments, and the future of his fascinating field.
Maize is one of the most economically important crops globally and much effort has been spent generating the high quality B73 reference genome. However, the 10 chromosome, 2.3 gigabase (Gb) B73 reference genome was a substantial challenge due to the fact it is comprised of 85% transposable elements, 75% of which are long terminal […]
Genomics England has chosen Congenica to provide clinical decision support services for the NHS Genomic Medicine Service, which is seeking to make genetic testing routing in healthcare.
Genomics England names Congenica as its Clinical Decision Support Service partner for the delivery of the NHS Genomic Medicine Service.
Consumer genetic sequencing, used to provide individuals with data about their ancestry and health, could identify more than half of Americans of European descent from anonymous samples, a new study has found.
Founder and CEO of Repositive, Fiona Nielsen ushers in the 10th anniversary of the US Genetic Information Nondiscrimination Act.
Rady Children’s Hospital has launched a new, California State-funded initiative called Project Baby Bear to cover rWGS for critically ill newborns across the state.
Human genome sequencing on PromethION: characterization of structural variants and repetitive regions
At the VIB-UAntwerp Center for Molecular Neurology, we apply sequencing technologies to elucidate the genetic etiology of neurodegenerative brain diseases such as Alzheimer Disease and Frontotemporal Dementia. Structural variation and repetitive regions are insufficiently characterized using currently dominant short-read sequencing technologies. Long-read sequencing on the Oxford Nanopore PromethION has the potential for a comprehensive […]
Pioneering Survey of Clinical NGS QC Practices Proves Need for Purpose-Built QC Solutions to Standardise Industry
The QC Survey, Conducted by SeraCare and GenomeWeb, Highlights Industry-Wide Variability of Testing Methods and Results
GBA analysis is complicated by the presence of a nearby pseudogene. A new method is presented for sequencing GBA, using an amplicon including all coding regions and introns, on the MinION, enabling a fast and comprehensive assessment.