Clinical Sequencing

Quest offers its BRCAvantage test on the MiSeq, has other oncology and neurology NGS tests in development, and is converting all its Sanger tests to NGS. 

From its first 40 patients, the lab's exome test had a diagnostic rate of 30 percent and identified secondary findings in three patients.

The researchers sequenced plasma samples on the MinIon and found that NIPT could be feasible with improvements to accuracy, DNA extraction, and library prep.

The UCSF Center for Next-Gen Precision Medicine Diagnostics will use NGS to develop technology to diagnose meningitis and encephalitis. 

The NGS panel found that a previously diagnosed primary lung tumor was actually metastatic breast cancer, leading to a change in the patient's treatment.

Methods and compositions for polynucleotide library production, immortalization and region of interest extraction
Compositions and methods for quantifying a nucleic acid sequence in a sample comprising a primer oligonucleotide with a 3’-terminal region comprising a 2’-modified nucleotide
Array-based translocation and rearrangement assays
Methods compositions, and kits comprising linker probes for quantifying polynucleotides

In Science this week: issues in reproducibility, circulating DNA predicts breast cancer relapse, and more.

Because of an autoimmune disorder, a man has been shedding live polioviruses for 28 years, according to an analysis appearing in PLOS Pathogens.

Being in a long-term collaboration can increase researchers' citation rates by 17 percent, a recent analysis says.

By analyzing tweets, Canadian researchers examine the public's view of gene patenting.

Sep
17
Sponsored by
Omicia

This online seminar will provide examples of how commercial and hospital-affiliated clinical labs are successfully developing and deploying high-throughput next-generation sequencing-based testing services for genetic diseases. 

Sep
24
Sponsored by
Personalis

This online seminar will outline a targeted enrichment technology to improve next-generation sequencing assays for cancer research and clinical applications. 

Oct
07
Sponsored by
Personal Genome Diagnostics

This webinar will highlight the key considerations and applications of next-generation sequencing for managing non-small cell lung cancer patients using plasma-based approaches. 

Oct
15
Sponsored by
Parabase

This webinar will discuss the benefits of a rapid targeted next-generation sequencing (TNGS) panel, using dried blood spots, for second-tier newborn metabolic and hearing loss screening and its immediate utility for high-risk diagnostic testing in the neonatal intensive care unit.