When it comes to fully enrolling infants in sequencing studies, parental enthusiasm sometimes seems to wane due to logistical considerations and privacy concerns.
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.
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.
The Wall Street Journal reports that National Institutes of Health Director Francis Collins' response to contamination concerns at the agency might have delayed care.
The final revision of the Common Rule doesn't include the proposed change requiring consent for leftover biospecimens.
The first Reproducibility Project: Cancer Biology papers show mixed results.
In Nature this week: mobile phone-based targeted DNA sequencing, and more.