Daniel MacArthur

@dgmacarthur

Human genomics, rare disease, and open data. Co-director of Medical and Population Genetics at .

Boston, USA
macarthurlab.org
2008(e)ko urria(e)tik Twitterren
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Txioak

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  1. Finkatutako Txioa
    urr. 17

    KK: The new data set is live, with an awesome new browser! Thanks to the tireless work of our engineering team, Nick Watts and , working right up to about 3 minutes before this talk (DM: can confirm.).

    5 erantzun 69 bertxio 154 atsegin
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  2. (e)k Bertxiotua
    Duela 16 ordu

    Australia cuts research funding for universities. Funding for research and development is at its lowest point in 40 years—even as Australia forecasts a budget surplus of AU$4.1 billion in 2019-2020

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  3. (e)k Bertxiotua
    Duela 22 ordu

    At 23andMe, taking calls from people who just got a life-changing surprise is so stressful that customer service reps are encouraged to go for a walk after an intense call, or crack open a bottle of wine. Great story via

    10 erantzun 74 bertxio 117 atsegin
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  4. (e)k Bertxiotua
    Duela 23 ordu

    If you’re writing about data-sharing and your article is behind a paywall with no preprint on biorxiv, it’s perhaps time to revisit your definitions of both “data” and “sharing” 🧐

    2 erantzun 88 bertxio 292 atsegin
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  5. (e)k Bertxiotua
    abe. 18

    1. What is the probability that the mutations carried by CRIPR twins Lulu and Nana are already present in the human population?

    7 erantzun 42 bertxio 63 atsegin
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  6. (e)k Bertxiotua
    abe. 15
    erabiltzaileri erantzuten erabiltzaileari eta erabiltzaileri erantzuten

    And without further ado, here's "A simple new approach to variable selection in regression, with application to genetic fine mapping" by

    22 bertxio 43 atsegin
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  7. (e)k Bertxiotua
    Duela 24 ordu

    How you make 2,300 attendees at the Broad Retreat feel like they belong

    Erantzun 1 4 bertxio 17 atsegin
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  8. (e)k Bertxiotua
    abe. 17

    We interviewed Mark Daly , newly appointed Director of for our website, as part of our 'Welcome to' series. Here, Prof. Daly discusses his into human , and why he chose to swap the USA for Finland:

    eta
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  9. (e)k Bertxiotua
    abe. 18

    If you're not a fan of extreme p-values in you can stop reading right here. But since I've been following the Manhattan plots generated by from the group I thought I'd "skip to the end" and look up most extreme p-value for any trait/any SNP 👇

    5 erantzun 14 bertxio 52 atsegin
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  10. (e)k Bertxiotua
    abe. 16

    WRITING A PAPER IN WORD: FONT TIPS Contrary to widely held belief (among LaTeX fands), it is easy to write a nice-looking paper in Word. You just have to do three things: (1) use styles; (2) avoid hideous fonts; (3) unleash the fonts’ potential. 2\

    9 erantzun 173 bertxio 553 atsegin
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  11. (e)k Bertxiotua
    abe. 18

    We are looking for two 's to join our team at in Helsinki! We offer a great opportunity to work in the forefront of the new wave of big data application for genome health. Read more and apply by 31 Jan!

    16 bertxio 10 atsegin
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  12. (e)k Bertxiotua
    abe. 18

    `the GDPR has had the unintended (but wholly predictable) consequence of consolidating market power behind the mega firms that privacy advocates hoped to take down. There is a reason that the GDPR earned its informal nickname of the "Google Data Protection Regulation"`

    Why does Google support an American data privacy law? Because it will actually help them dominate the tech market even more.
    4 erantzun 115 bertxio 221 atsegin
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  13. abe. 17

    Where to go for rare disease diagnoses after exome sequencing fails? Excellent review of the options by and :

    2 erantzun 120 bertxio 189 atsegin
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  14. (e)k Bertxiotua
    abe. 17

    Check out the omission of proper negative controls.

    Check out this example blind Snapshot prediction vs. actual photo of
    2 erantzun 4 bertxio 13 atsegin
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  15. (e)k Bertxiotua
    abe. 16

    Your regular friendly reminder that vaccines are completely, utterly, totally, and entirely unrelated to the development of autism (N = 1.3 million)

    17 erantzun 294 bertxio 723 atsegin
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  16. (e)k Bertxiotua
    abe. 16

    A Powerful Lesson That Patients Deserve Full Control Of Their Genetic Data: 🧬A lab can refuse to share data to protect their own market position 🧬At the expense of scientific progress, and the very patients who paid them to conduct genetic testing 👉

    4 erantzun 43 bertxio 71 atsegin
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  17. (e)k Bertxiotua
    abe. 16

    folks, we need to demand high standards in the current gold rush of methods devel. It's not OK for methods to be published w/ vaporware implementations. We need open src code written in open src languages w/ documentation, test data, unit tests, pkg'd, installable.

    9 erantzun 39 bertxio 159 atsegin
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  18. (e)k Bertxiotua
    abe. 16

    As a Pfizer scientist I work alongside talented immigrants from all over the world. - why are you advertising on Tucker Carlson? Do you support his views on immigrants? What message are you sending to our colleagues and customers?

    Pacific Life pulls advertisements from Tucker Carlson's show after "poorer and dirtier" immigration comment
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  19. (e)k Bertxiotua
    abe. 16

    New: "p-Hacking & False Discovery in A/B Testing" Setup: 2,101 RCTs in which businesses track effects over time. "73% of experimenters stop experiment[s] when a[n] effect reaches 90% confidence...75% of the effects are truly null."

    10 erantzun 182 bertxio 497 atsegin
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  20. (e)k Bertxiotua
    abe. 14

    Reference genome falls down again; Southern blots are sometimes a geneticists best friend (especially in repeat regions). Lessons to live by, that I have encountered now in three separate phases of my career, summed up in a beautiful paper by and colleagues!

    New! & colleagues identify a GGC repeat expansion in XYLT1, demonstrating that Baratela-Scott syndrome is an autosomal recessive repeat expansion disorder
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  21. (e)k Bertxiotua
    abe. 15

    UCLA asked faculty to consider declining to review for Elsevier journals

    3 erantzun 16 bertxio 26 atsegin
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