NHGRI

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.

Eric Green, NHGRI director

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.

Using haplotype profiling, phylogenetics, and other analyses, researchers retraced sickle allele emergence to a single event occurring roughly 7,300 years ago.

During a two-year pilot, the Genomic Ascertainment Cohort will collect 10,000 genotypes and make patients available for follow-up exams to confirm predictions.

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In Science this week: International Wheat Genome Sequencing Consortium publishes the bread wheat cultivar Chinese Spring reference genome, and more.

At his FDA Law Blog, Jeffrey Gibbs discusses FDA's technical assistance for the draft Diagnostic Accuracy and Innovation Act.

The New York Times reports that genetic testing has uncovered unfaithful penguins at a Utah aquarium.

Cancer researcher loses funding under new Wellcome Trust anti-bullying policies, the Guardian reports.