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  1. proslijedio/la je Tweet
    10. pro 2019.

    saw some folks yelling eugenics for dating app. Let's stop the knee jerk reaction for a moment and think about it🧐. 1. It is not eugenics. This dating app does not drive alleles to extinction. In fact, if successful, disease allele should evade negative selection 1/n

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  2. proslijedio/la je Tweet
    16. lis 2019.

    Thrilled to announce the release of gnomAD v3, a catalogue of 700M genetics variants based on WGS from 71k samples! It is our first release mapped to GRCh38 and represents a massive leap in analysis power for all non-coding analysis using gnomAD.

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  3. proslijedio/la je Tweet
    16. lis 2019.

    Are you at and interested in doing cutting-edge population-scale human genomics in sunny Australia? Then we have a lot to talk about. Drop me a line - my DMs are open.

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  4. proslijedio/la je Tweet
    3. lis 2019.

    Very excited to share this preprint with the community! Code for reproducing figures and analyses is available at and , and data .

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  5. proslijedio/la je Tweet
    10. ruj 2019.

    Our new lab in is hiring! Come join our patient-driven mission to develop drugs for prion disease in our lifetime. Seeking a postdoc and research associate — help us prevent neurodegeneration!

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  6. proslijedio/la je Tweet
    11. ožu 2019.

    We annotated 31,510 multi-nucleotide variants (MNVs) in gnomAD exome dataset, including 405 gain of nonsense, 1,818 rescue of nonsense mutation, and >16,000 more MNVs predicted to alter protein sequences. This allowed us to evaluate the impact of MNV at population level. (2/4)

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  7. proslijedio/la je Tweet
    19. velj 2019.

    Our new gnomAD companion preprint, on the importance of transcript expression for interpretation. In gnomAD we see variants we don't expect (e.g. in haploinsufficient disease genes). Often found on alternative txs, with little evidence of expression 1/4

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  8. proslijedio/la je Tweet
    31. svi 2017.
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  9. proslijedio/la je Tweet
    19. tra 2017.

    Congrats to grad student on her first paper! Using RNA-seq to improve diagnosis for rare muscle disease:

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  10. proslijedio/la je Tweet
    5. ožu 2017.

    A visualization of chaos: 41 triple pendulums with very slightly different initial conditions

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  11. proslijedio/la je Tweet
    27. velj 2017.

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

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  12. proslijedio/la je Tweet
    14. velj 2017.

    Learn how the Broad Institute used for genomics! My favorite talk from Spark Summit East.

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  13. proslijedio/la je Tweet
    19. kol 2016.

    The ExAC Browser: Displaying reference data information from over 60,000 exomes

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  14. proslijedio/la je Tweet
    17. kol 2016.

    I'm delighted to announce the (open access) publication of the ExAC paper in Nature:

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  15. proslijedio/la je Tweet
    6. lip 2016.

    igv.js 1.0.0 has been released. Get the JavaScript & CSS files here: See more info here:

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  16. proslijedio/la je Tweet
    13. lip 2016.

    PubMed Commons comment by and me about that "new MS gene" paper: Basically, there's no way this is real.

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  17. proslijedio/la je Tweet
    8. lip 2016.

    Received notice today that my F31 will be funded. Thank you, . I am so, so, SO excited to do this science.

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  18. proslijedio/la je Tweet
    30. tra 2016.

    “She's so resourceful, she could start a lab on a desert island.” Gr8 quote on Emmanuelle Charpentier

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  19. proslijedio/la je Tweet
    17. ožu 2016.

    We’ve released the code so you can reproduce all the figures in the ExAC paper. Here’s how to do it:

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  20. proslijedio/la je Tweet
    17. ožu 2016.
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