Genetics, Genomics & Molecular Diagnostics News

The researchers said that although improvements are needed for accurate basecalling, the MinIon is suitable for structural variant identification and haplotype phasing. 

The researchers added that these expression changes could be used to predict when a bloom might occur.

A proteomic analysis of pancreatic ductal adenocarcinoma tumor and stromal samples led to a stromal protein that appears to coincide with tumor aggressiveness.

Arti Rai and Colleen Chien are studying whether the Supreme Court's decisions in Mayo v Prometheus and Bilski v Kappos have had a negative impact on diagnostics innovation.

Partners in the iHope program expect to sequence the genomes of 100 patients and parents in the first year who could not otherwise afford it. 

In PNAS this week: genes involved in histone deacetylation in Arabidopsis, effects of pathogenic presenilin-1 mutations, and more.

After a study finds DNA from antibiotic-resistant bacteria in Beijing smog, residents there worry, according to the New York Times.

Canada begins its search for a chief government science advisor, Nature News reports.

A company is using facial recognition tools to identify genetic disorders from pictures, Technology Review reports.

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.