Scientists from the UK and China discussed two new NIPTs that include single-gene disorders and a study to estimate disease recurrence risk in families.
A UK court determined that Ariosa's licensee infringed upon at least one claim of Illumina's European patent 1 524 321 and upheld the patent's validity.
A small but significant proportion of autism spectrum disorder cases — particularly those occurring in females — appeared to involve biallelic loss-of function or missense mutations.
Patients who enroll will have their samples tested as part of routine diagnostic care, making it easier for them to take part in clinical trials without additional testing.
McKesson will be the exclusive distributor of the QiaStat-Dx system in US hospitals with fewer than 200 beds and non-exclusive distributor for future expansion into retail pharmacy clinics.
The researchers found that dark regions impact more than 700 protein-coding genes and also identified a novel mutation in a known Alzheimer's disease gene.
The researchers found that dark regions impact more than 700 protein-coding genes and also identified a novel mutation in a known Alzheimer's disease gene.
McKesson will be the exclusive distributor of the QiaStat-Dx system in US hospitals with fewer than 200 beds and non-exclusive distributor for future expansion into retail pharmacy clinics.
The researchers found that dark regions impact more than 700 protein-coding genes and also identified a novel mutation in a known Alzheimer's disease gene.
The agreement follows a number of other distribution deals Bioké has signed in recent months including ones with Omni Life Science, Syntec, and Namocell.
In Genome Research this week: links between biological aging and mutations affecting epigenetic regulators; long-read sequencing-based strategy to map chromatin accessibility; and more.
Join MNG Laboratories' Chief Medical Officer, Dr. Peter L. Nagy, and the Clinical Reporting Team as they present multiple case studies illustrating the value of using complementary testing and data analysis methods to increase the clinical sensitivity of MNG’s genetic testing portfolio. The team will highlight cases solved through the application of high resolution CNV assessment, mitochondrial DNA analysis, transcriptome/RNA sequencing, and repeat expansion screening from genome sequencing datasets. After the presentation, there will be a 15 minute Q&A with our speakers.
Join us for a webinar presented by our Chief Medical Officer, Dr. Peter L. Nagy, to discuss the benefits of performing and analyzing genome and RNA sequencing together. The increased number of single nucleotide and copy number variants associated with genome sequencing are best interpreted with the help of joint parental testing and the assessment of the functional significance of intronic and regulatory changes with a functional test like the transcriptome.
