Archive for August, 2015
Lanosterol reverses protein aggregation in cataracts : Nature : Nature Publishing Group
Monday, August 17th, 2015Lanosterol reverses protein aggregation in cataracts
http://www.nature.com/nature/journal/v523/n7562/full/nature14650.html A finding from rare-disease #exome sequencing cc @solvemendelian
QT:{{”
…Lanosterol is an
amphipathic molecule enriched in the lens. It is synthesized by lanosterol synthase (LSS) in a key cyclization reaction of a cholesterol synthesis pathway. Here we identify two distinct homozygousLSS missense mutations (W581R and G588S) in two families with extensive congenital cataracts. Both of these mutations affect highly conserved amino acid residues and impair key catalytic functions of LSS. Engineered expression of wild-type, but not mutant, LSSprevents intracellular protein aggregation of various
cataract-causing mutant crystallins.
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The Fatigue Conundrum » American Scientist
Monday, August 17th, 2015The #Fatigue Conundrum
http://www.americanscientist.org/issues/feature/2015/3/the-fatigue-conundrum/99999 Safety v cost cutting: ~”Delta saved $250k/yr by
shaving an oz from each steak it served”
QT:{{”
Such narrow profit margins, coupled with volatile fuel prices (which today account for up to 40 percent of operating expenses as compared with only 15 percent a few decades ago), mean that airlines are continuously looking for ways to cut costs. According to a report in the New York Times, Delta Airlines saved $250,000 in one year by shaving an ounce from each of the steaks it served on board, whereas American Airlines is said to have saved $40,000 a year by removing a single olive from every salad it served to passengers.
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Multiple hypothesis testing in genomics – Goeman – 2014 – Statistics in Medicine – Wiley Online Library
Monday, August 17th, 2015Multiple hypothesis testing in genomics
http://onlinelibrary.wiley.com/doi/10.1002/sim.6082/full Nice overview, comparing familywise error & FDR control + FDP estimation
http://www.few.vu.nl/~mavdwiel/HDDA/tutorial_multtest.pdf
QT:{{”
This paper presents an overview of the current state-of-the-art in multiple testing in genomics data from a user’s perspective. We describe methods for familywise error control, false discovery rate control and false discovery proportion estimation and confidence, both conceptually and practically, and explain when to use which type of error rate. We elaborate the assumptions underlying the methods, and discuss pitfalls in the interpretation of results. In our discussion we take into account the exploratory nature of genomics experiments, looking at selection of genes before or after testing, and at the role of validation experiments.
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Glypican-1 identifies cancer exosomes and detects early pancreatic cancer : Nature : Nature Publishing Group
Sunday, August 16th, 2015[Protein] Glypican-1 [uniquely] identifies [circulating] cancer #exosomes & detects…cancer
http://www.nature.com/nature/journal/v523/n7559/full/nature14581.html Maybe also for @exRNA
QT:{{”
Exosomes are lipid-bilayer-enclosed extracellular vesicles that contain proteins and nucleic acids. They are secreted by all cells and circulate in the blood. Specific detection and isolation of
…we identify a cell surface
proteoglycan, glypican-1 (GPC1), specifically enriched on
cancer-cell-derived exosomes. GPC1+ circulating exosomes (crExos) were monitored …”}}
http://www.nature.com/nature/journal/v523/n7559/full/nature14581.html
No assembler required | The Economist
Sunday, August 16th, 2015No assembler required
http://www.economist.com/news/science-and-technology/21660077-how-teach-computer-science-nursery-school-no-assembler-required KIBO, Dash, Vortex & Hackaball provide a playful way to learn #programming
QT:{{”
Dr Umaschi Bers is not alone in that quest. KIBO, made by KinderLab Robotics (of which she is chief science officer when she is not doing her day job), is unusual only in that its instruction set is so tied to physical objects. Other toys being developed to teach young children the rudiments of programming use not wooden blocks but blocks of code, presented as icons of various sorts on the screens of tablets, smartphones and even old-fashioned PCs. Instead of being scanned, these instructions are uploaded wirelessly to the robots they are intended to control—robots that come in all sorts of shapes and sizes.
Some, like Vortex (a wheeled device that resembles a flattened motorcycle helmet) and Dash (a tetrahedron of spheres which, besides moving around at its programmer’s command, can also play tunes on a glockenspiel), are, like KIBO, designed mainly to scuttle across the living-room floor. Others, though, are heading in a different direction.
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