Genetics, Genomics & Molecular Diagnostics News

The company submitted more than 95,000 recently re-curated variants identified in more than 1,500 genomes sequenced in Illumina's Clinical Services Laboratory.

Through Navican, patients at Intermountain can get tested on an internally developed NGS platform that gauges a range of actionable genes implicated in cancer. 

The service provides broad access to information that may be critical for physicians in providing precision cancer treatments.

The companies discussed their plans to change the one-test, one-drug companion diagnostic paradigm at the Personalized and Precision Medicine conference this week. 

The test can now be used to screen for sickle cell trait, a condition in which an individual carries one of the two abnormal genes responsible for sickle cell disease.

In Science this week: convergent evolution in bird hemoglobin, and more.

The Wall Street Journal speaks with patients affected by questionable test results from Theranos.

Researchers link variants in TACR3 to hot flashes during menopause, Live Science reports.

Kuwait says it will alter its law requiring citizens and visitors to provide DNA samples, New Scientist 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.