functional genomics

At the ACMG meeting, Cynthia Morton said that several projects, including her team’s SEQaBOO study, are exploring the utility of genomic testing in newborn hearing screening.

This Week in PNAS

In PNAS this week: cautionary note for cross-species functional genomic comparisons, chimeric pig models of X-linked diseases, and more.

The company has yet to release formal studies, but discussed two cases that illustrate the potential benefit of the methodology in improving patient treatment.

The perturbed genes will be identified by barcodes associated with single guide RNAs, and read using an in situ sequencing method.

More than 200 bone mineral density-linked loci turned up using data for over 140,000 individuals, including 153 new loci.

New research suggests some individuals with germline BRCA1/2 mutations who develop cancer may benefit from tumor BRCA functionality testing prior to treatment.

Nigel Mouncey joined the JGI in March from Dow AgroSciences and is interested in broadening the user base and scope of JGI's research. 

This Week in PNAS

In PNAS this week: functional genomic study of effects of anti-parasitic drugs, humped bladderwort genome assembly, and more.

The researchers reported that their assay could detect women with defective double-stranded break repair pathways even when sequencing could not.

A new user-friendly software tool is helping Rory Johnson of the University of Bern to do genome-wide screening of lncRNA function by deleting promoters.

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University of California, San Diego, researchers have developed a gene drive to control a fruit-destroying fly.

A new study of a β-thalassemia gene therapy appears promising, according to NPR.

In Nature this week: hair color genes, hybridization between 13-year and 17-year cicadas, and more.

Futurism writes that gene doping could be the next generation of cheating in sports.