Daniel MacArthur

@dgmacarthur

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

Boston, USA
Vrijeme pridruživanja: listopad 2008.

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  1. Prikvačeni tweet
    16. lis 2019.

    I'm delighted to announce the release of a brand new gnomAD dataset, v3, our first whole-genome call set natively aligned to GRCh38, containing 71,702 whole genomes: .

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  2. proslijedio/la je Tweet

    Join my lab! In our Postdoctoral Training Program in Bioimage Analysis, you will help bring the deep learning revolution to biologists as we make new software. You need to be well-organized, w/ enthusiasm for (but not tons of experience in) image analysis

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  3. proslijedio/la je Tweet
    3. velj

    2015: Immediate open access is critical for Ebola. 2016: For Zika 2019: For opioids 2020: for ... 2025: Let's stop this nonsense. It's critical for for HIV, cancer, malaria, and literally ALL RESEARCH.

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  4. proslijedio/la je Tweet
    3. velj

    Looking forward to seeing the inaugural batch of foundations in action! It was fun working with the CZI team on this project. Several of the 30 grantees are clinic-ready and on the cusp of a venture philanthropy metamorphosis.

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  5. 3. velj

    Nobody has more incentive to cure rare diseases than patients and their families - but they often lack the resources and knowledge to make serious impact. Kudos to Tania Simoncelli and CZI for putting serious money into closing this gap.

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  6. proslijedio/la je Tweet
    2. velj

    Here are some thoughts on stats “vs” ML. Rel btwn the fields, why debates on topic are almost always fundamentally flawed, why I think there’s so much talking past each other, and why I wish we could focus instead on *specific* methods + problems 2/3

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  7. proslijedio/la je Tweet
    1. velj

    Jurassic Park as a kid: desperately wants to dinosaurs be real Jurassic Park as an adult: desperately wants the strange old billionaire with an offer of 3 years of research funding in exchange for going on a potentially life-threatening vacation to be real

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  8. proslijedio/la je Tweet
    1. velj

    We’ve just put an additional, cautionary note about the use of preprints on every

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  9. proslijedio/la je Tweet
    30. sij

    Pro of academia: I have friends all around the world! Con of academia: My friends are scattered all around the world.

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  10. proslijedio/la je Tweet
    31. sij

    I'm excited to finally share our latest preprint with the world: "Peer review and preprint policies are unclear at most major journals". I'll summarise the results below. 1/n

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  11. proslijedio/la je Tweet
    29. sij

    Really excited for this review to be online! Our contemporary review of genetic testing with superstar co-authors in Our goal was to be as practical as possible!

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  12. proslijedio/la je Tweet
    30. sij

    This is such a nice way to visualize how zones of access map to benefit and risk.

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  13. proslijedio/la je Tweet

    I like data. I think having data is vital to addressing social problems. But a graph of maternal deaths that circulated on Twitter this week shows the limits of trusting numbers too much. Precision creates an illusion of accuracy and that can be dangerous. 1/12

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  14. proslijedio/la je Tweet
    29. sij

    I am not excited to say that there were similar problems in the raw data of another of my papers - this paper is now retracted too. I know there might be some interest in what's going on so here is the full account of how and why I came to this decision:

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  15. 30. sij

    This is an excellent thread. Worth thinking about how much higher the expected ROI will be for funders who thoughtfully and systematically formalize and enforce these principles.

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  16. proslijedio/la je Tweet
    28. sij

    We wrote the review that I wished I'd had when I started my PhD in gene regulation & genomics! Read for our take on the past 40 yrs of enhancer biology, a def of an "enhancer", and how we think modern tech (like CRISPR screens) will enable the next era of understanding the genome

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  17. proslijedio/la je Tweet
    27. sij
    Odgovor korisniku/ci

    I was recently asked how I got into bioinformatics, and my honest answer was "spite".

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  18. proslijedio/la je Tweet
    27. sij

    Mark Daly: "When you start data mining in the genomic vaults, there’s no telling what solutions you may uncover. There are tremendous opportunities to boost national healthcare, starting with better means to predict disease".

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  19. proslijedio/la je Tweet
    27. sij

    R. Burns Ode to ChromiumV3: Farewell V3, many a cell type ye captr’d In yon micro drops Didnie take longer th’ 8 minutes, Tae get the job done tops Bonny ‘NextGem’ we have tae now use That takes twice a’ long Your passing from o’re this earth is sad Due to bein' sued by Bio-Rad

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  20. 23. sij

    Electronic medical record vendors attempting to squash legislation making it easier for patients to share their data. One of the few positives of the EMR dystopia is it shows so very clearly one potential future that genomics must fight to avoid.

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  21. proslijedio/la je Tweet
    22. sij

    I have an email folder labeled "NO" where I put all of the things I say no to and feel bad about. Then when I am feeling overwhelmed I look in the folder and remember that it would be much worse if I had said yes to those things. And then I feel slightly better.

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