Daniel MacArthur

@dgmacarthur

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

Boston, USA
macarthurlab.org
Joined October 2008
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  1. Pinned Tweet
    27 Feb 2017

    The long-awaited gnomAD VCF is here - sites + frequencies for 123,136 exomes and 15,496 genomes:

    11 replies 362 retweets 390 likes
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  2. Retweeted
    Oct 12

    I'm getting really excited for ! Always awesome to see great colleagues. I'll be talking about improving polygenic risk score accuracy in diverse populations on Saturday (10/20) at 9:15. More details on this and other cool talks here!

    ASHG18 preview: four speakers on what you can expect from their sessions
    1 reply 13 retweets 52 likes
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  3. Retweeted
    Oct 12

    Outstanding work by (and ) on a very important and (we felt) not sufficiently discussed element of the PRS discussion - not any easy topic by any means so we welcome all nature of feedback!

    I'm excited to share this perspective with , , , and RIKEN colleagues on the high potential for polygenic risk scores to improve health outcomes, but also raise health disparities given vast Eurocentric GWAS biases:
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    13 retweets 41 likes
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  4. Retweeted
    Oct 11

    I'm excited to share this perspective with , , , and RIKEN colleagues on the high potential for polygenic risk scores to improve health outcomes, but also raise health disparities given vast Eurocentric GWAS biases:

    2 replies 76 retweets 122 likes
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  5. Retweeted
    Oct 12

    A wonderful collection of papers focused on ClinGen and ClinVar. Thank you to all of the authors who contributed!

    Excited to announce the release of a special issue of Human Mutation: ClinGen and ClinVar – Enabling Genomics in Precision Medicine Congratulations to all contributors!
    35 retweets 78 likes
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  6. Retweeted
    Oct 11

    Check our new paper. This was a super interesting (and important) project to work on. Thanks a lot for the incredible team and to my colleagues , , and Shai Carmi!

    3 replies 60 retweets 117 likes
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  7. Retweeted
    Oct 10

    What an awesome, clear read. Thank you for taking time to write something so educational. Genome wide association analyses in type 2 diabetes: the gift that keeps on giving

    2 replies 22 retweets 53 likes
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  8. Retweeted
    Oct 10

    Main paper with brain imaging data on ~15,000 participants & GWAS for 3,144 measures of brain structure & function. Genome-wide association studies of brain imaging phenotypes in UK Biobank , Steve Smith

    1 reply 12 retweets 20 likes
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  9. Retweeted
    Oct 10

    News & Views by Nancy Cox : UK Biobank shares the promise of big data The generosity of the United Kingdom in sharing this resource with the rest of the world is a shining example of the value of investing in the greater good.

    1 reply 29 retweets 39 likes
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  10. Retweeted
    Oct 9

    No matter how many times you read the first paragraph of the Wikipedia page of the former Chair of my Dept., it never gets any less remarkable.

    40 replies 781 retweets 2,077 likes
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  11. Retweeted
    Oct 8

    So, advice: 1. PREVENTION Don't use jargon. Introduce the relevant idea in functional terms, no OS code names. Don't say 'can we pre-register this?' Don't say 'OSF'. Say 'can I publish my hypotheses about this study before we do it?' Say 'Can we share this dataset publicly?'

    1 reply 3 retweets 10 likes
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  12. Retweeted
    Oct 8

    New : AE: Reviewers: and Anon Preprint:

    1 reply 15 retweets 27 likes
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  13. Retweeted
    Oct 8

    Does it? Experiments showing that rRNA was the catalytic core of the ribosome contradicted theory for decades, but remained unaccepted. Same thing for DNA, transposons, and more. Scientific progress is retroactively narrated by victors, but prolly occurs invisibly, day by day.

    This Tweet is unavailable.
    2 replies 11 retweets 43 likes
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  14. Retweeted
    Oct 8

    The 1st in utero genome editing for treatment of a congenital disease in mice, hereditary tyrosinemia by

    7 replies 134 retweets 197 likes
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  15. Retweeted
    Oct 8

    Great post-doc opportunity in our group at the highly productive and informative interface between cellular genomics and human genetics. Please RT.

    46 retweets 25 likes
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  16. Retweeted
    Oct 8

    Must-read case report. Highlights danger of even *very* rare “off target” effects of therapies involving gene editing In this case, off-target = wrong cell type edited ex vivo (leukemia vs T cell) while manufacturing CD19 CAR-T therapy

    2 replies 18 retweets 59 likes
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  17. Retweeted
    Oct 8

    hypothetical: I make a mouse KO of a psychiatric 'disease gene' and I also make 19 KOs of random brain expressed genes. you're allowed to do any behavioral tests you like blind to genotype. what's the success rate for correctly identifying the 'disease model'? my guess, ~5%.

    18 replies 21 retweets 83 likes
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  18. Retweeted
    Oct 7

    "Give yourself five years!" - was the advice I got from , one of the most productive geneticists I know! It was at the times when things started to overwhelm me. Here I pass it on to other aspiring group leaders.

    1 reply 33 retweets 93 likes
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  19. Retweeted
    Oct 5

    Incredible post. Gold OA apparently is useless for citations, and Elsevier and co deliberately obfuscate their metadata to avoid Google and others from indexing papers for searching! Self archiving in public repositories is the way forward. Go go go!

    I wrote a blog all about the OECD’s new report on and why Green OA is the driver of impact and citation boosts, as opposed to Gold OA. Hope it’s helpful :)
    14 replies 136 retweets 192 likes
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  20. Retweeted
    Oct 7
    Replying to

    I’m sure you can recreate his physical appearance from his genome 😊

    2 replies 14 retweets 96 likes
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  21. Retweeted
    Oct 7

    How went from finding families to fighting crimes.

    3 retweets 8 likes
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