newborn screening | GenomeWeb

newborn screening

Cystic fibrosis carrier status often did not impact family planning decisions and was sometimes perceived as a risk to unaffected family members.

Researchers from Taiwan followed dozens of children who screened positive for deafness-related genotypes at birth, identifying those with hearing loss over six years.

The addition of certain kinds of information could help clinical labs determine whether variants of uncertain significance are pathogenic or benign.

The WUSTL-developed method detects a bile acid that is found at increased levels in Niemann-Pick patients, and is ready for pilot testing, its developers said.

Tute has partnered with LIMS provider UniConnect to build infrastructure to support gene panels for mitochondrial, metabolic, and other genetic diseases.

Clinicians in Boston are beginning to sequence newborns' genomes, CBS Boston reports.

This Week in PNAS

In PNAS this week: common variants that influence viral load in HIV patients, tumor evolution patterns, and more.

The newborn screening firm has attracted investment from Illumina and institutional investors and a loan from the North Carolina Biotechnology Center.

The NIH has issued a preliminary guidance for newborn dried blood spot research.

Off and Running

The BabySeq project to study the risks and benefits of sequencing newborns is underway.


In Nucleic Acids Research this week: ProTraits includes genetic, phenotypic data on bacteria, archaea; Candida albicans assembly 22; and more.

The Wall Street Journal reports that researchers are looking beyond Cas9 for CRISPR editing.

Familial DNA searches in criminal cases are winning over some critics, the Los Angeles Times reports.

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