NHGRI

A new analysis pointed to a rise in over-generalized or incorrect bacterial identification by k-mer lowest common ancestor methods as the database has grown.

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.

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

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Germany's Project DEAL has come to an agreement with the publisher Wiley over journal access and open-access publishing, ScienceInsider reports.

Researchers uncover additional loci associated with lifespan, which the Telegraph says could be folded into a genetic test.

A Canadian panel recommends public coverage of the gene therapy Kymriah if its cost comes down, the Globe and Mail reports.

In Nucleic Acids Research this week: new accurate quantification by sequencing approach, CNV breakpoints in Plasmodium falciparum, and more.