Daniel MacArthur

@dgmacarthur

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

Boston, USA
macarthurlab.org
Gått med oktober 2008
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  1. Fastnålad Tweet
    17 okt.

    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 svar 69 retweets 154 gillanden
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  2. Retweetade
    för 16 timmar sedan

    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

    5 svar 84 retweets 47 gillanden
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  3. Retweetade
    för 22 timmar sedan

    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 svar 74 retweets 117 gillanden
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  4. Retweetade
    för 23 timmar sedan

    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 svar 88 retweets 292 gillanden
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  5. Retweetade
    18 dec.

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

    7 svar 42 retweets 63 gillanden
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  6. Retweetade
    15 dec.
    Svar till och

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

    22 retweets 43 gillanden
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  7. Retweetade
    för 24 timmar sedan

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

    1 svara 4 retweets 17 gillanden
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  8. Retweetade
    17 dec.

    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:

    och
    1 svara 40 retweets 65 gillanden
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  9. Retweetade
    18 dec.

    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 svar 14 retweets 52 gillanden
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  10. Retweetade
    16 dec.

    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 svar 173 retweets 553 gillanden
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  11. Retweetade
    18 dec.

    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 retweets 10 gillanden
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  12. Retweetade
    18 dec.

    `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 svar 115 retweets 221 gillanden
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  13. 17 dec.

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

    2 svar 120 retweets 189 gillanden
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  14. Retweetade
    17 dec.

    Check out the omission of proper negative controls.

    Check out this example blind Snapshot prediction vs. actual photo of
    2 svar 4 retweets 13 gillanden
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  15. Retweetade
    16 dec.

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

    17 svar 294 retweets 723 gillanden
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  16. Retweetade
    16 dec.

    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 svar 43 retweets 71 gillanden
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  17. Retweetade
    16 dec.

    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 svar 39 retweets 159 gillanden
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  18. Retweetade
    16 dec.

    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
    4 svar 17 retweets 40 gillanden
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  19. Retweetade
    16 dec.

    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 svar 182 retweets 497 gillanden
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  20. Retweetade
    14 dec.

    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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    3 svar 14 retweets 42 gillanden
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  21. Retweetade
    15 dec.

    UCLA asked faculty to consider declining to review for Elsevier journals

    3 svar 16 retweets 26 gillanden
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