Genetics, Genomics & Molecular Diagnostics News

A recent study examining the websites of 30 DTC genomics firms found that many do not follow international recommendations for disclosing information to customers.

The materials and equipment, which were purchased in August, include supplies to perform the CDC MAC-ELISA test and its Trioplex RT-qPCR assay.

By focusing on sequences that have diverged rapidly in humans, researchers identified regulatory sequences suspected of affecting neural processes.

The University of Washington researchers intend to license the tool, called My46, to other academic and nonprofit research organizations free of charge.

The deal will leverage BioNTech's IVAC Mutanome platform, which uses next-generation sequencing to identify targets for personalized mRNA-based vaccines.

In Science this week: a global genetic interaction map for Saccharomyces cerevisiae, and progress made in genomics, precision medicine, and therapeutics.

The price of plane tickets can affect how scientists in different countries choose to collaborate with each other, NPR reports.

The Annals of Improbable Research has awarded the 2016 Ig Nobel Prizes.

Scientific American alleges that the FDA has been "arm-twisting journalists into relinquishing their reportorial independence."

Genetic analysis of single nucleotide polymorphisms must be accurate, reliable and economical to be a viable part of human genetic research, drug discovery, and diagnostics. This study demonstrates the ability of the IntelliQube, a fully integrated liquid handling and real-time quantitative PCR instrument, to successfully multiplex SNP assays in a single well and decrease thermal cycling times without compromising data quality.

This white paper offers advice from two industry experts, Jill Northup from Medical College of Wisconsin, and Philip Cotter from ResearchDx, on setting up a clinical NGS laboratory. The paper covers the general principles of CLIA certification and their specific application to clinical NGS, as well as considerations on implementing informatics to support validated workflows.

Next-generation sequencing (NGS) of bisulfite-converted DNA to detect methylation status with per-base resolution is currently restricted by input requirements, requiring at least 50 ng of DNA. This Application Note shows how the unique chemistry of the Accel-NGS Methyl-Seq DNA Library Kit enables the construction of high complexity libraries for:

•      Genome-wide methylation analysis from 5 ng of human cell-free DNA (cfDNA).