Aaron Quinlan

@aaronquinlan

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

Univ. of Utah
quinlanlab.org
Tilmeldt maj 2011
235 billeder og videoer Billeder og videoer

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  1. for 13 timer siden

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

    1 svar 38 likes
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  2. retweetede
    for 16 timer siden

    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 retweets 19 likes
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  3. retweetede
    18. dec.

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

    3 svar 34 retweets 54 likes
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  4. retweetede
    18. dec.

    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
    Vis denne tråd
    23 retweets 58 likes
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  5. retweetede
    17. dec.

    Our latest paper

    3 svar 48 retweets 133 likes
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  6. 17. dec.

    The Yoda of Silicon Valley (Donald Knuth):

    1 svar 13 retweets 34 likes
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  7. retweetede
    16. dec.

    So Utah...

    2 retweets 10 likes
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  8. retweetede
    16. dec.

    Looking at you

    sometimes I look back upon my 1-liner Perl commands in horror 😅
    1 svar 1 retweet 12 likes
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  9. 14. dec.

    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.

    2 svar 10 likes
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  10. retweetede
    14. dec.

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

    2 svar 26 retweets 70 likes
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  11. retweetede
    14. dec.

    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 retweets 15 likes
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  12. retweetede
    14. dec.

    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 retweets 5 likes
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  13. 13. dec.

    These are excellent!

    Want more ? Learn about and in their Vitae Vignette video here:
    1 svar 1 retweet 2 likes
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  14. retweetede
    13. dec.

    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 svar 31 retweets 47 likes
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  15. 13. dec.

    😍😍😍😍😍

    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 retweets 2 likes
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  16. retweetede
    10. dec.

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

    38 retweets 61 likes
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  17. 13. dec.

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

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  18. retweetede
    12. dec.

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

    4 retweets 3 likes
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  19. retweetede
    12. dec.

    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.

    3 svar 29 retweets 158 likes
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  20. 11. dec.

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

    1 svar 10 likes
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