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Dan L. Nicolae Eric Gamazon Wei Zhang Shiwei Duan M. Eileen Dolan Nancy J. Cox 《PLoS genetics》2010,6(4)
Although genome-wide association studies (GWAS) of complex traits have yielded more reproducible associations than had been discovered using any other approach, the loci characterized to date do not account for much of the heritability to such traits and, in general, have not led to improved understanding of the biology underlying complex phenotypes. Using a web site we developed to serve results of expression quantitative trait locus (eQTL) studies in lymphoblastoid cell lines from HapMap samples (http://www.scandb.org), we show that single nucleotide polymorphisms (SNPs) associated with complex traits (from http://www.genome.gov/gwastudies/) are significantly more likely to be eQTLs than minor-allele-frequency–matched SNPs chosen from high-throughput GWAS platforms. These findings are robust across a range of thresholds for establishing eQTLs (p-values from 10−4–10−8), and a broad spectrum of human complex traits. Analyses of GWAS data from the Wellcome Trust studies confirm that annotating SNPs with a score reflecting the strength of the evidence that the SNP is an eQTL can improve the ability to discover true associations and clarify the nature of the mechanism driving the associations. Our results showing that trait-associated SNPs are more likely to be eQTLs and that application of this information can enhance discovery of trait-associated SNPs for complex phenotypes raise the possibility that we can utilize this information both to increase the heritability explained by identifiable genetic factors and to gain a better understanding of the biology underlying complex traits. 相似文献
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Tom Baden Andre Maia Chagas Greg Gage Timothy Marzullo Lucia L. Prieto-Godino Thomas Euler 《PLoS biology》2015,13(3)
The introduction of affordable, consumer-oriented 3-D printers is a milestone in the current “maker movement,” which has been heralded as the next industrial revolution. Combined with free and open sharing of detailed design blueprints and accessible development tools, rapid prototypes of complex products can now be assembled in one’s own garage—a game-changer reminiscent of the early days of personal computing. At the same time, 3-D printing has also allowed the scientific and engineering community to build the “little things” that help a lab get up and running much faster and easier than ever before.Applications of 3-D printing technologies (Fig. 1A, Box 1) have become as diverse as the types of materials that can be used for printing. Replacement parts at the International Space Station may be printed in orbit from durable plastics or metals, while back on Earth the food industry is starting to explore the same basic technology to fold strings of chocolate into custom-shaped confectionary. Also, consumer-oriented laser-cutting technology makes it very easy to cut raw materials such as sheets of plywood, acrylic, or aluminum into complex shapes within seconds. The range of possibilities comes to light when those mechanical parts are combined with off-the-shelf electronics, low-cost microcontrollers like Arduino boards [1], and single-board computers such as a Beagleboard [2] or a Raspberry Pi [3]. After an initial investment of typically less than a thousand dollars (e.g., to set-up a 3-D printer), the only other materials needed to build virtually anything include a few hundred grams of plastic (approximately US$30/kg), cables, and basic electronic components [4,5].Open in a separate windowFig 1Examples of open 3-D printed laboratory tools.
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1, Components for laboratory tools, such as the base for a micromanipulator [18] shown here, can be rapidly prototyped using 3-D printing. A
2, The printed parts can be easily combined with an off-the-shelf continuous rotation servo-motor (bottom) to motorize the main axis. B
1, A 3-D printable micropipette [8], designed in OpenSCAD [19], shown in full (left) and cross-section (right). B
2, The pipette consists of the printed parts (blue), two biro fillings with the spring, an off-the-shelf piece of tubing to fit the tip, and one screw used as a spacer. B
3, Assembly is complete with a laboratory glove or balloon spanned between the two main printed parts and sealed with tape to create an airtight bottom chamber continuous with the pipette tip. Accuracy is ±2–10 μl depending on printer precision, and total capacity of the system is easily adjusted using two variables listed in the source code, or accessed via the “Customizer” plugin on the thingiverse link [8]. See also the first table.Area Project Source Microscopy Smartphone Microscope
http://www.instructables.com/id/10-Smartphone-to-digital-microscope-conversion
iPad Microscope
http://www.thingiverse.com/thing:31632
Raspberry Pi Microscope
http://www.thingiverse.com/thing:385308
Foldscope
http://www.foldscope.com/
Molecular Biology Thermocycler (PCR)
http://openpcr.org/
Water bath
http://blog.labfab.cc/?p=47
Centrifuge
http://www.thingiverse.com/thing:151406
Dremelfuge
http://www.thingiverse.com/thing:1483
Colorometer
http://www.thingiverse.com/thing:73910
Micropipette
http://www.thingiverse.com/thing:255519
Gel Comb
http://www.thingiverse.com/thing:352873
Hot Plate
http://www.instructables.com/id/Programmable-Temperature-Controller-Hot-Plate/
Magnetic Stirrer
http://www.instructables.com/id/How-to-Build-a-Magnetic-Stirrer/
Electrophysiology Waveform Generator
http://www.instructables.com/id/Arduino-Waveform-Generator/
Open EEG
https://www.olimex.com/Products/EEG/OpenEEG/
Mobile ECG
http://mobilecg.hu/
Extracellular amplifier
https://backyardbrains.com/products/spikerBox
Micromanipulator
http://www.thingiverse.com/thing:239105
Open Ephys
http://open-ephys.org/
Other Syringe pump
http://www.thingiverse.com/thing:210756
Translational Stage
http://www.thingiverse.com/thing:144838
Vacuum pump
http://www.instructables.com/id/The-simplest-vacuum-pump-in-the-world/
Skinner Box
http://www.kscottz.com/open-skinner-box-pycon-2014/