Round-up, Feb 2nd – Feb 8th

23andMe links being a morning person and genetics. The GWAS type analysis found 15 regions, several near known circadian rhythm genes. http://www.nature.com/ncomms/2016/160202/ncomms10448/full/ncomms10448.html

Oxford Nanopore’s MinION has been at work, producing “real time, portable sequencing for Ebola surveillance”: http://www.nature.com/nature/journal/vaop/ncurrent/full/nature16996.html Using the MinION (which weighs less than 100g), “We were able to generate results less than 24 h after receiving an Ebola-positive sample, with the sequencing process taking as little as 15–60 min. We show that real-time genomic surveillance is possible in resource-limited settings and can be established rapidly to monitor outbreaks.”

Last February, the UK approved the creation of three person embryos, where the mitochondria came from a third donor. The FDA had requested an Institute of Medicine report on the technique. Published this week, the report concluded with various caveats that it could be ethical — but limited to male embryos for the moment (males do not pass on mitochondria, so the changes made would affect only the individual in question). http://www.nap.edu/catalog/21871/mitochondrial-replacement-techniques-ethical-social-and-policy-considerations. However, the latest federal budget “prevents the FDA from using funds to review applications in which a human embryo is intentionally created or modified to include” changes that could be passed down to future generations.

A link between genes near an individual’s disrupted transcription factor binding sites and their phenotype data is established in this paper, in a further foray beyond the exome: http://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1004711. This mutational load/burden style approach used data from five individuals who have made both their whole genomes and medical histories public.

Common disease: the product of many common variants, or a few rare ones? GWAS, which only look at common variants, have not been able to explain much genetic predisposition. This study looked at both common and rare variants for AMD http://www.ncbi.nlm.nih.gov/pubmed/26691988: “Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.” Also see a writeup at MassGenomics http://massgenomics.org/2016/02/rare-variant-studies-of-common-disease.html.

Two reasons senescent cells (those that no longer undergo cell division) have been in the news.

 

In a follow on to the case of the child who was forced to leave a Palo Alto school because he was a CF carrier, the U.S. Departments of Education and Justice have filed a brief siding with the family and against Palo Alto school district, arguing that the decision violoated both his first ammendament prviacy rights and the Americans with Disabilities Act http://www.paloaltoonline.com/news/2016/02/08/feds-weigh-in-on-palo-alto-dna-privacy-case

A Nature Editorial draws attention to how hard it is to get a paper corrected or retracted, even if it is clearly wrong, and even by the authors of the study: http://www.nature.com/news/reproducibility-a-tragedy-of-errors-1.19264

 

Advertisements

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s