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
    9 hours ago

    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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    10 retweets 23 likes
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  3. 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 71 retweets 109 likes
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  4. Retweeted
    17 hours ago

    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!
    22 retweets 56 likes
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  5. 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 58 retweets 114 likes
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  6. 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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  7. 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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  8. 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 26 retweets 37 likes
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  9. 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 777 retweets 2,069 likes
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  10. 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 9 likes
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  11. Retweeted
    Oct 8

    New : AE: Reviewers: and Anon Preprint:

    1 reply 15 retweets 27 likes
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  12. 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.

    Progress in science comes when experiments contradict theory.
    2 replies 11 retweets 43 likes
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  13. Retweeted
    Oct 8

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

    7 replies 131 retweets 190 likes
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  14. 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.

    45 retweets 25 likes
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  15. 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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  16. 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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  17. 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 32 retweets 91 likes
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  18. 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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  19. 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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  20. Retweeted
    Oct 7

    How went from finding families to fighting crimes.

    3 retweets 8 likes
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  21. Oct 7

    Really impressed at the robust science behind Craig Venter’s latest business idea

    you've been kidnapped. your kidnappers allow you to keep tweeting to pretend everything is alright. what would you tweet that would allarm your followers without the kidnappers knowing that you're asking for help. surprise me.
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    2 replies 2 retweets 68 likes
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