Daniel MacArthur

@dgmacarthur

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

Boston, USA
macarthurlab.org
Inscrit en octobre 2008
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  1. Tweet épinglé
    17 oct.

    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 réponses 69 Retweets 154 j'aime
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  2. a retweeté
    il y a 16 heures

    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 réponses 84 Retweets 47 j'aime
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  3. a retweeté
    il y a 22 heures

    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 réponses 74 Retweets 117 j'aime
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  4. a retweeté
    il y a 23 heures

    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 réponses 88 Retweets 292 j'aime
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  5. a retweeté
    18 déc.

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

    7 réponses 42 Retweets 63 j'aime
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  6. a retweeté
    15 déc.
    En réponse à et

    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 j'aime
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  7. a retweeté
    il y a 23 heures

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

    1 réponse 4 Retweets 17 j'aime
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  8. a retweeté
    17 déc.

    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:

    et
    1 réponse 40 Retweets 65 j'aime
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  9. a retweeté
    18 déc.

    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 réponses 14 Retweets 52 j'aime
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  10. a retweeté
    16 déc.

    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 réponses 173 Retweets 553 j'aime
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  11. a retweeté
    18 déc.

    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 j'aime
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  12. a retweeté
    18 déc.

    `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 réponses 115 Retweets 221 j'aime
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  13. 17 déc.

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

    2 réponses 120 Retweets 189 j'aime
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  14. a retweeté
    17 déc.

    Check out the omission of proper negative controls.

    Check out this example blind Snapshot prediction vs. actual photo of
    2 réponses 4 Retweets 13 j'aime
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  15. a retweeté
    16 déc.

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

    17 réponses 294 Retweets 723 j'aime
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  16. a retweeté
    16 déc.

    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 réponses 43 Retweets 71 j'aime
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  17. a retweeté
    16 déc.

    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 réponses 39 Retweets 159 j'aime
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  18. a retweeté
    16 déc.

    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 réponses 17 Retweets 40 j'aime
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  19. a retweeté
    16 déc.

    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 réponses 182 Retweets 497 j'aime
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  20. a retweeté
    14 déc.

    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 réponses 14 Retweets 42 j'aime
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  21. a retweeté
    15 déc.

    UCLA asked faculty to consider declining to review for Elsevier journals

    3 réponses 16 Retweets 26 j'aime
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