Clinical Sequencing | GenomeWeb

Clinical Sequencing

Richard Wilson and Elaine Mardis plan to use comprehensive sequencing to transition genomic discoveries into clinical assays for pediatric cancer and germline disorders.

Canadian researchers have added to the growing body of evidence supporting the use of sequencing to diagnose suspected genetic disorders in newborns admitted to the NICU.

The study found that ctDNA and tissue testing can fail to match up in many cases, but supports independent and complementary value for the two methods.

The Australian Therapeutic Goods Administration has listed the MiSeqDx as an IVD medical device. 

The firm aims to compete initially in the hereditary cancer screening market by better identifying patients who qualify for genetic testing.

Method of preparing nucleic acid molecules
Multiple tagging of individual long DNA fragments
Molecular profiling of tumor
Phased genome sequencing
Endonuclease-enhanced helicase-dependent amplification
DNA methylation analysis by digital bisulfite genomic sequencing and digital methylight

In PNAS this week: peanut subgenome progenitor sequence, homozygosity mapping and linkage analyses using exome data, and more.

Tech companies like Microsoft are looking into DNA as a data storage device, Scientific American writes.

The New York Times writes that the Max Planck Institute for Infection Biology's Emmanuelle Charpentier has always been on the move, though now it's more about CRISPR.

The European Union calls for all publicly funded scientific papers to be immediately freely accessible to the public by 2020.