Clinical Sequencing

The panels yielded a diagnosis for 43 percent of more than 2,300 patients, at a cost between $75 and $150 per panel.

Compared to commercial exome kits and whole-genome sequencing, the firm's test had improved coverage in medically interpretable genes and the 56 ACMG genes.

Illumina's technology will be used to sequence DNA collected through the project, which aims to make genomic testing a standard in cancer care. 

The investment bank noted Illumina's dominance in the NGS space and added that NIPT could be a near-term growth driver in the clinical sequencing market. 

The new workflow, which was validated across three separate laboratories in New Jersey, is a critical step toward standardizing the use of RNA-seq in clinical genomics.

Array-based translocation and rearrangement assays
Methods compositions, and kits comprising linker probes for quantifying polynucleotides

In PLOS this week: locus linked to non-syndromic hearing loss, phylogenetic relationships of Klebsiella pneumoniae isolates, and more.

In a column at Nature, researcher Fyodor Kondrashov worries about the influence of politics on Russian science.

The term 'epigenetics' is being used by quacks to give them a veneer of science, writes Adam Rutherford at the Observer.

The NIH has issued a preliminary guidance for newborn dried blood spot research.