Aaron Quinlan

@aaronquinlan

Associate Prof of Human Genetics and Biomedical Informatics . Co-founder of ()

Univ. of Utah
quinlanlab.org
Vrijeme pridruživanja: svibanj 2011.
235 fotografija ili videozapisa Fotografije i videozapisi

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  1. prije 13 sati

    I had time to think today and actually came up with a new idea. I may do this tomorrow as well.

    1 reply 38 korisnika označava da im se sviđa
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  2. proslijedio/la je Tweet
    prije 16 sati

    I wrapped variantkey () in nim here: allows en/de-coding chrom,pos,ref,alt as uint64. I'll have a lib that makes use of this available for use soon.

    5 proslijeđenih tweetova 19 korisnika označava da im se sviđa
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  3. proslijedio/la je Tweet
    18. pro

    Our HATCHeT algorithm for identifying copy number aberrations and whole-genome duplications in multi-sample tumor sequencing data is now online

    34 proslijeđena tweeta 54 korisnika označavaju da im se sviđa
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  4. proslijedio/la je Tweet
    18. pro

    Our paper is officially out! How muscle regulates fertility in male (worms).

    SWM-1ng to success in spermatogenesis A Research Highlight from our new issue, featuring & colleagues' paper on somatic regulation of C. elegans sperm development
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    23 proslijeđena tweeta 58 korisnika označava da im se sviđa
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  5. proslijedio/la je Tweet
    17. pro

    Our latest paper

    48 proslijeđenih tweetova 133 korisnika označavaju da im se sviđa
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  6. 17. pro

    The Yoda of Silicon Valley (Donald Knuth):

    1 reply 13 proslijeđenih tweetova 34 korisnika označavaju da im se sviđa
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  7. proslijedio/la je Tweet
    16. pro

    So Utah...

    2 proslijeđena tweeta 10 korisnika označava da im se sviđa
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  8. proslijedio/la je Tweet
    16. pro

    Looking at you

    sometimes I look back upon my 1-liner Perl commands in horror 😅
    1 reply 1 proslijeđeni tweet 12 korisnika označava da im se sviđa
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  9. 14. pro

    I just went to for the first time in awhile. Got a 3.5 foot paper receipt (literally) for a bottle of aspirin. No joke. The Lorax disliked trees but CVS *hates* them. Never again.

    10 korisnika označava da im se sviđa
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  10. proslijedio/la je Tweet
    14. pro

    Comparing two genetics associations at a locus (e.g. GWAS/eQTL)? Check out 's new tool RACER: Regional Association ComparER. Preprint: . R package:

    26 proslijeđenih tweetova 70 korisnika označava da im se sviđa
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  11. proslijedio/la je Tweet
    14. pro

    Rewritten csvtk stats: summary stats of digital fields (supports groupby). Thanks for lots of feature suggestion on csvtk. csvtk does not try to do all things that can be done by R/Pandas, you can use it for fast investigation in shell.

    7 proslijeđenih tweetova 15 korisnika označava da im se sviđa
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  12. proslijedio/la je Tweet
    14. pro

    Congrats , , Stephan + co on their contribution to the package! A great extension of the CWAS framework from the SSC-WGS paper earlier this year. Promoter variation does influence autism risk, but *very small* effects!

    2 proslijeđena tweeta 5 korisnika označava da im se sviđa
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  13. 13. pro

    These are excellent!

    Want more ? Learn about and in their Vitae Vignette video here:
    1 reply 1 proslijeđeni tweet 2 korisnika označavaju da im se sviđa
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  14. proslijedio/la je Tweet
    13. pro

    Our preprint for svtools, the Hall Lab's suite of python utilities for making SV callsets, is finally out. Built off of excellent work from Haley Abel, , , Niel Das, , and .

    1 reply 31 proslijeđeni tweet 47 korisnika označava da im se sviđa
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  15. 13. pro

    😍😍😍😍😍

    Our latest! Discovery of pathogenic var "invisible" to exome/genome - recessive trinuc repeat disorder. Fun facts: 1. Mechanism = repeat expansion + methylation 2. Repeat region NOT in ref genome 3. We did a SOUTHERN blot! 4. Repeat is fragile site FRA16A
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    2 proslijeđena tweeta 2 korisnika označavaju da im se sviđa
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  16. proslijedio/la je Tweet
    10. pro

    Acquired HER2 mutations in ER+ metastatic breast cancer confer resistance to estrogen receptor–directed therapies (Nayar et al.)

    38 proslijeđenih tweetova 61 korisnik označava da mu se sviđa
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  17. 13. pro

    I picked up some postcards of British propaganda during WWII. This one is the best.

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  18. proslijedio/la je Tweet
    12. pro

    Searching the well lit regions of the genome for lurking variation.

    4 proslijeđena tweeta 3 korisnika označavaju da im se sviđa
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  19. proslijedio/la je Tweet
    12. pro

    Established PIs - I don’t know if you know this, but it makes such a difference when you take the time to encourage your junior colleagues. Building a lab is slow work, feedback is sparse, metrics hard to come by, and it can be easy to worry you’re lost in the weeds.

    29 proslijeđenih tweetova 158 korisnika označava da im se sviđa
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  20. 11. pro

    When will VR technology allow me to be a part of books I read? All other applications are trash in comparison.

    1 reply 10 korisnika označava da im se sviđa
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