Skip to main content
Premium Trial:

Request an Annual Quote

All the CNVs

A new database housed at the US National Center for Biotechnology Information aims to help physicians determine the clinical significance of copy-number variations, reports Nature Medicine's Spoonful of Medicine blog. The International Standards for Cytogenomic Arrays database "has been established to leverage data from the thousands of patients with developmental disabilities, congenital anomalies, and other phenotypes being tested through ISCA member laboratories," write Emory University School of Medicine's Christa Martin and her colleagues in Clinical Genetics. Martin et al. also discuss a rating system, on a scale of zero to three, that evaluates the evidence for clinical significance. "Before now, there was not a formal process to rate CNV pathogenicity," Martin tells the Spoonful of Medicine. "It made analyzing [CNV microarray] data very confusing for doctors. This database begins to fix that problem."

The Scan

US Booster Eligibility Decision

The US CDC director recommends that people at high risk of developing COVID-19 due to their jobs also be eligible for COVID-19 boosters, in addition to those 65 years old and older or with underlying medical conditions.

Arizona Bill Before Judge

The Arizona Daily Star reports that a judge is weighing whether a new Arizona law restricting abortion due to genetic conditions is a ban or a restriction.

Additional Genes

Wales is rolling out new genetic testing service for cancer patients, according to BBC News.

Science Papers Examine State of Human Genomic Research, Single-Cell Protein Quantification

In Science this week: a number of editorials and policy reports discuss advances in human genomic research, and more.