Round-up May 22nd-30th

A study published today showing CRISPR off-target effects knocked CRISPR stocks, despite the fact that the findings were old news. 

The FDA have approved the first therapy based on molecular feature rather than tissue of origin. About 4% of all advanced cancers have the genetic characteristics involved. Merck won the apporval based on an accelerated” process, off the back of a trial of 149 patients.

The Broad have released the latest version of their genome analysis software, GATK, under an open source license. The software, which has 45,000 users, was previously costly for non-academic use.

A meta-analysis of the genetics behind intelligence identifies several genetic loci that collectively explain 4.8% of the variance in intelligence. An editorial in Nature argues that we have historical reasons to fear the field of intelligence studies (history of racism, history of eugenics, fears of biological determinism), but we shouldn’t this hold us back from showing that there is no genetic basis for discrimination”.

When it comes to complex disease, GWAS have historically found relatively common variants of small effect. Larger sample sizes are a way to go, as is using isolated populations in the hope of identifying founder mutations, as this study does to uncover a variant protective against heart disease.

How rare is rare enough for a variant to be possibly causative of disease? This all important cut-off affects how many variants must be considered when evaluating a case. The paper from the ExAC group that lays out a framework for defining this cut-off is finally out, though of course it was up on BioRxiv months ago, and was previously rounded-up here.

Nature reports that police in Xinjiang, China, have been collecting blood samples and are building up DNA sequencing facilities that go beyond what would be needed for regular forensics. There is no clear framework for legal use of the data.

NPR reports on CRISPR use outside the lab. 


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