Genetics, Genomics & Molecular Diagnostics News

Researchers have filled in an important gap in the historical record for global malaria distribution with these missing European strain sequences.

The startup, which was founded by Harvard's George Church, plans to commercialize a sequencing technology that is also able to map RNAs in 3D. 

The firm's technology, called genotyping by random amplicon sequencing, or GRAS, should improve the efficiency of identifying and selecting markers for crop improvement.

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.

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.

The bill, which would boost NIH funding among other things, was overwhelmingly approved by the House and cleared a Senate subcommittee, but has stalled amid negotiations over appropriations.

In Nucleic Acids Research this week: transcriptome patterns of Zika-infected cells, updated Comparative Toxicogenomics Database, and more.

BMJ study says that about half of former hematology-oncology regulators now work for industry.

Science should wish PhDs who leave academia well, a Nature editorial says.

New York-based doctors announce the birth of a baby boy whose parents underwent mitochondrial transfer therapy, New Scientist reports.

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).