Genetics, Genomics & Molecular Diagnostics News
Eric Dishman, Director, All of Us Research Program

NIH has been conservative on the PMI's budget and its funds are sufficient to launch enrollment next year, begin collecting data, and initiate genetic testing pilot projects.

The genomic sequencing firm will use the financing to support growth in both the research and clinical NGS market. 

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. 

The single-cell approach enabled them to identify gene expression in rare cell types, highlighting a previously unrecognized role for these cells in diabetes. 

The researchers found that 80 percent of pediatric posterior fossa ependymomas have decreased levels of H3K27me3 histone modifications.

In Nature this week: epigenetic contributors to type 1 diabetes, assembly algorithm to detect structural variations, and more.

The Financial Times looks into how sequencing is moving into the clinic.

Mitochondrial replacement therapy may soon be occurring in the UK, according to the Guardian.

The US House of Representatives has passed the latest version of the 21st Century Cures Act.

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.