Genetics, Genomics & Molecular Diagnostics News

Using sequencing approaches, researchers are learning more about what drives breast cancer metastasis and resistance.

Babesia parasite in a blood cell

The three-year trial used immunoassays and PCR testing, and found 335 Babesia microti positive samples among 89,153 blood donations.

Amid concerns about buparlisib's toxicity profile, a study suggests there might be a benefit for a subpopulation of patients with a more targeted PI3K inhibitor.

The study, which is still ongoing, also provided support for a separate Phase 2/3 trial of a targeted treatment for the neurodevelopmental disorder.

After passing the House of Representatives last week, the legislation is now set to go before President Barack Obama, who said he will sign it into law.

The funding will support projects involving the use of genomic technologies to improve human health and agriculture, as well as to address key environmental challenges.

In Science this week: genetic analysis of pollutant-tolerant fish, and more.

Researchers have found a rare carbapenem resistance gene on a US pig farm, NBC News reports.

New York officials are considering the use of a familial DNA search to get a lead on a suspect in the strangulation death of a runner.

In Nature this week: genome-wide transcriptome analysis of brain samples from people with autism spectrum disorder, flounder genome, and more.

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).

Humanized NSG and NSG-SGM3 mice are a new preclinical bridge for immune-oncology therapies. Humanized mice are a proven host for engraftment of human tumors or establishment of human immunity following hematopoietic stem cell transplantation. Understanding the interactions between human immune cells and tumors is paramount when devising treatment strategies that prevent tumor evasion of immune cells and improve cytotoxic responses.