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  • explore Targeted Sequencing Bags a Diagnosis »

    • Omics! Omics!
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    1 day ago Keith Robison

    A nice complement to the one paper (Ng et al) I detailed last week is a paper that actually came out just before hand (Choi et al). Whereas the Ng paper used whole exome targeted sequencing to find the mutation for a previously unexplained rare genetic disease, the Choi et al paper used a similar scheme (though with a different choice of targeting platform) to find a known mutation in a patient, thereby diagnosing the patient.The patient in question has a tightly interlocked pedigree (Figure 2), with two different consanguineous marriages shown. Put another way, this person could trace 3 paths back to one set of great-great-grandparents. Hence, they had quite a bit of DNA which was identical-by-descent, which meant that in these regions any low-frequency variant call could be safely ignored as noise.

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    ⇪ Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. (1 link)
    M Choi, UI Scholl, W Ji, T Liu, IR Tikhonova, P Zumbo, A Nayir, A Bakkaloğlu, S Ozen, S Sanjad, C Nelson-Williams, A Farhi, S Mane, RP Lifton
  • explore IPMU in Tokyo Needs Support »

    • Cosmic Variance
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    1 day ago Sean

    Japan has had a long and distinguished tradition in modern physics. Just to pick one example, the amazing efforts of Shin’ichirō Tomonaga to understand quantum electrodynamics, anticipating the work of Schwinger and Feynman while remaining essentially isolated from the rest of the world during World War II. More recently, Japan has continued to do forefront experimental work, including the SuperKamiokande neutrino detector and the Belle particle physics experiment at KEK. Nevertheless, in my own areas of physics — theoretical particle physics and cosmology — Japan hasn’t had a relatively low institutional profile. There are great individual physicists, but not any one institution of theoretical physics that really rose to the level of other great international places — a place where scientists around the world would naturally think of to spend a sabbatical or send their students as postdocs.

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    ⇪ Japanese science faces deep cuts (3 links)
    D Cyranoski
  • explore The Extrastriate Body Area and Visual Distortions in Anorexia »

    • The Neurocritic
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    1 day ago The Neurocritic

    Contour Drawing Rating Scale (Thompson & Gray, 1995) - established as a reliable and valid measure of body size perception.Anorexia nervosa, an obsessive and unrelenting quest for thinness, is one of the most deadly psychiatric disorders. The documented mortality rate ranges from 3.3% to 18% in different studies (Herzog et al., 2000), and those with the disorder are ten times more likely to die from their illness than a comparable healthy population.

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    ⇪ Development and validation of a new body-image assessment scale. (1 link)
    MA Thompson, JJ Gray
    ⇪ Mortality in eating disorders: a descriptive study. (1 link)
    DB Herzog, DN Greenwood, DJ Dorer, AT Flores, ER Ekeblad, A Richards, MA Blais, MB Keller
    ⇪ New insights into symptoms and neurocircuit function of anorexia nervosa (1 link)
    W H Kaye, J L Fudge, M Paulus
    ⇪ A Cortical Area Selective for Visual Processing of the Human Body (1 link)
    P E Downing, Y Jiang, M Shuman, N Kanwisher
    ⇪ Electrophysiological Studies of Human Face Perception. II: Response Properties of Face-specific Potentials Generated in Occipitotemporal Cortex (1 link)
    G McCarthy, A Puce, A Belger, T Allison
    ⇪ Reduction of gray matter density in the extrastriate body area in women with anorexia nervosa (1 link)
  • explore Weird Science is desperate to shift the blame to somebody... anybody »

    • Nobel Intent
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    1 day ago

    Blamestorming spreads like the plague: It's a typical experience in a large organization: a project has gone bad, and everybody involved looks to find ways to shift responsibility. But that practice is  almost certainly self-defeating, according to a paper entitled, "Blame contagion: The automatic transmission of self-serving attributions." If people are directing their mental energy into pointing fingers, they're not going to spend time figuring out what went wrong and learning from that. The authors show that watching someone assign blame in these situations makes others in a group more likely to view doing so as a goal, one that they pursue themselves. As a result, blame actually does become contagious.

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    ⇪ Blame contagion: The automatic transmission of self-serving attributions (1 link)
    ⇪ Human Pathogens Abundant in the Bacterial Metagenome of Cigarettes (1 link)
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