Skip to main content
Premium Trial:

Request an Annual Quote

But Maybe Not So Useful

At MIT's Tech Review, Emily Singer discusses new genetic tests launched by Decode this week. One looks for variations linked to various cardiovascular diseases and the other for variations associated with cancer risk and they are priced at $195 and $225. However, the clinical utility of tests that include multiple genetic risk factors hasn't yet been worked out. "We don't yet know how to combine such data in an accurate way," UNC-Chapel Hill's James Evans says.

The Scan

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.

TB Resistance Insights Gleaned From Genome Sequence, Antimicrobial Response Assays

Researchers in PLOS Biology explore M. tuberculosis resistance with a combination of sequencing and assays looking at the minimum inhibitory concentrations of 13 drugs.

Mendelian Disease Genes Prioritized Using Tissue-Specific Expression Clues

Mendelian gene candidates could be flagged for further functional analyses based on tissue-specific transcriptome and proteome profiles, a new Journal of Human Genetics paper says.

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.