After comparing manual methods with the firm's pcr.ai tool in more than 20,000 cases, they found that the use of AI improved test accuracy and reliability.
The company's antibiotic-induced hearing loss test will be used to screen babies for a genetic mutation that can cause deafness when given certain antibiotics.
Illumina officials discussed several issues with investors, including the new Qiagen partnership, while at ASHG the firm introduced reagent kit upgrades.
While the Oxford, UK-based company has focused on drug development partnerships to date, it is also keen to see uptake of genetic disease risk screening by the NHS.
Thousands of parent-child exomes helped researchers identify apparently causative mobile element insertions in a handful of children with developmental disorders.
The study will evaluate how Prolaris impacts prostate cancer treatment decisions, and how those decisions impact costs within UK's National Health Service.
The NAM, NAS, and Royal Society have formed a commission to develop a framework on the proper use of genome editing, and convened its first meeting in Washington, DC, this week.
The Guardian reports that the National Health Service is abandoning its plan to allow healthy people to pay for genomic analysis.
The chief executive of the National Health Service in England is to call for tumor-agnostic drugs to be "fast-tracked," according to the Times.
At the BMJ, David Shaw from the University of Basel and Maastricht University critiques the National Health Service's clinical sequencing plan.
Nature News reports that gene therapy approaches are tackling sickle cell disease, but that the cost of treatment is a concern.
The Washington Post reports that a US Senate committee voted this week to approve the nomination of Stephen Hahn to lead the Food and Drug Administration.
One gene regulates hundreds of others to influence facial development, according to New Scientist.
In Nature this week: resources for single-cell analysis, little overlap in the microRNAs used by Salmonella and Shigella to infect host cells, and more.