Genetics, Genomics & Molecular Diagnostics News

The company said the diagnostics unit will be focused on reproductive health, diagnostics for emerging markets, and applied genomics.

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

Under the Color Family Testing Program, family members of patients who tested positive for a gene on Color's hereditary cancer test can be tested for $50.

A team from Radboud University in the Netherlands performed a new detailed and transparent cost analysis for sequencing based on both static costs, and factors that may differ from institution to institution.

Researchers are making mutations in a cell's genome to mark it and later read out that information to create cell lineage maps and chemical interaction histories.

The new company believes it can be the dominant clearinghouse for genome analysis apps or other tools, with free and unlimited storage of users' genomic data.

In PNAS this week: mutations linked to nasopharyngeal carcinoma, salivary proteins common among oral squamous cell carcinoma patients, and more.

At Wired, a science journalist discusses her decision not to undergo BRCA testing.

The Japan Times says regulations are needed to oversee human genome-editing research.

In PLOS this week: molecular surveillance of S. Typhi, genome-wide association study of attention in children, and more.

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).