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.

"The idea is to open up a completely new market for bringing genetics into the lower-risk general population," Invitae CEO Randy Scott told GenomeWeb.

A high-profile, independent committee is considering the liability issues impacting labs as genetic testing increasingly becomes integrated into patient care.

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

In PNAS this week: miR-515 levels higher in women with preeclampsia, horizontal gene transfer in parasitic plants, and more.

A cancer researcher retracts 19 articles from one journal for image manipulation, according to Retraction Watch.

Precision medicine has to consider context in addition to genetic mutations in cancer treatment, Medscape reports.

Genomics may help the Cavendish banana from succumbing to fungal infections, a trio of researchers writes at the Conversation.

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.