Daniel MacArthur

@dgmacarthur

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

Boston, USA
macarthurlab.org
Sumali noong Oktubre 2008
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    Okt 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 sagot 69 mga retweet 154 (na) gusto
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    16 (na) oras ang nakalipas

    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 sagot 84 mga retweet 47 gusto
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    22 oras ang nakalipas

    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 sagot 74 mga retweet 117 gusto
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    23 oras ang nakalipas

    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 sagot 88 retweet 292 gusto
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    Dis 18

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

    7 sagot 42 retweet 63 gusto
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    Dis 15
    Sumasagot kina at

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

    22 retweet 43 gusto
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    24 (na) oras ang nakalipas

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

    1 sagot 4 mga retweet 17 gusto
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    Dis 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:

    at
    1 sagot 40 retweet 65 gusto
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    Dis 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 sagot 14 mga retweet 52 gusto
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    Dis 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 mga sagot 173 retweet 553 gusto
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    Dis 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 mga retweet 10 gusto
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    Dis 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 mga sagot 115 retweet 221 gusto
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  13. Dis 17

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

    2 sagot 120 retweet 189 (na) gusto
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    Dis 17

    Check out the omission of proper negative controls.

    Check out this example blind Snapshot prediction vs. actual photo of
    2 sagot 4 mga retweet 13 gusto
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    Dis 16

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

    17 sagot 294 mga retweet 723 gusto
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    Dis 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 mga sagot 43 retweet 71 gusto
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    Dis 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 mga sagot 39 mga retweet 159 (na) gusto
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    Dis 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
    4 mga sagot 17 retweet 40 gusto
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    Dis 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 sagot 182 retweet 497 gusto
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    Dis 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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    Dis 15

    UCLA asked faculty to consider declining to review for Elsevier journals

    3 sagot 16 mga retweet 26 (na) gusto
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