Investigators reported on efforts to help labs better implement guidelines and measure disease associations, and to create shared languages for variants across different databases.
The report advises that although sequencing the genomes of infants can be appropriate in some specific cases, we shouldn’t implement large-scale programs to test healthy babies.
The automated, whole-genome directional genomic hybridization system can measure de novo random, low-frequency, and complex structural variations.
A ClinGen panel reports that only one gene linked to Brugada syndrome out of 21 tested has enough evidence supporting its inclusion in clinical genetic tests.
Fifteen years after the Human Genome Project was declared completed, genomic medicine is beginning to be implemented, sooner than Green and others had expected.
A panel at the Biology of Genomes meeting discussed the ethical, legal, and social ramifications of germline gene editing.
Researchers associated with the Cancer Genome Atlas (TCGA) Research Network will publish more than 25 papers this week to discuss findings from the initiative.
The DocUBuild tool grew out of the eMERGE network and helps institutions curate and manage genomic educational material for clinicians and patients alike.
NIH and Inova Health System are populating the nascent Genomic Ascertainment Cohort with data from ClinSeq and Inova's longitudinal family study
National Human Genome Research Institute researchers report that the sickle cell mutation arose about 7,300 years ago.
Researchers describe a way to share data while keeping it secure, Agence France Presse reports.
In Science this week: genetic mutations typically associated with esophageal cancer are common in older, healthy individuals, and more.
India's Council of Scientific and Industrial Research has a new director-general, according to ScienceInsider.
A new study links more than a hundred genes to autism spectrum disorder, Discover's D-brief blog reports.