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'Precision Medicine'

The National Research Council panel has called for the formation of what could be termed the "Google Maps of human disease," says ScienceInsider's Jocelyn Kaiser. The panel, formed last year at NIH's request to reform the current system of disease classification, says there is a need for a large data network that combines the latest genomic and molecular data on diseases with patients' medical records, Kaiser says. Such a database would be useful in turning patient care into "precision medicine," the panel says.

"This system would be used to develop a new disease taxonomy and personalize medical care," Kaiser adds. The panel recommended a pilot project that would involve sequencing the whole genomes of one million Americans and combining that data with their medical histories to look for links to disease.

The Scan

Study Points to Tuberculosis Protection by Gaucher Disease Mutation

A mutation linked to Gaucher disease in the Ashkenazi Jewish population appears to boost Mycobacterium tuberculosis resistance in a zebrafish model of the lysosomal storage condition, a new PNAS study finds.

SpliceVault Portal Provides Look at RNA Splicing Changes Linked to Genetic Variants

The portal, described in Nature Genetics, houses variant-related messenger RNA splicing insights drawn from RNA sequencing data in nearly 335,700 samples — a set known as the 300K-RNA resource.

Automated Sequencing Pipeline Appears to Allow Rapid SARS-CoV-2 Lineage Detection in Nevada Study

Researchers in the Journal of Molecular Diagnostics describe and assess a Clear Labs Dx automated workflow, sequencing, and bioinformatic analysis method for quickly identifying SARS-CoV-2 lineages.

UK Team Presents Genetic, Epigenetic Sequencing Method

Using enzymatic DNA preparation steps, researchers in Nature Biotechnology develop a strategy for sequencing DNA, along with 5-methylcytosine and 5-hydroxymethylcytosine, on existing sequencers.