Aaron Quinlan

@aaronquinlan

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

Univ. of Utah
quinlanlab.org
Sumali noong Mayo 2011
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  1. 12 oras ang nakalipas

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

    1 sagot 38 gusto
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    16 (na) oras ang nakalipas

    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.

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

    3 sagot 34 mga retweet 54 (na) gusto
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    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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    Dis 17

    Our latest paper

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    The Yoda of Silicon Valley (Donald Knuth):

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    Dis 16

    So Utah...

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    Looking at you

    sometimes I look back upon my 1-liner Perl commands in horror 😅
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    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 sagot 10 gusto
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    Dis 14

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

    2 sagot 26 mga retweet 70 gusto
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    Dis 14

    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.

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    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!

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  13. Dis 13

    These are excellent!

    Want more ? Learn about and in their Vitae Vignette video here:
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    Dis 13

    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 sagot 31 retweet 47 gusto
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    😍😍😍😍😍

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

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  17. Dis 13

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

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    Dis 12

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

    4 mga retweet 3 gusto
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    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 sagot 29 mga retweet 158 gusto
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  20. Dis 11

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

    1 sagot 10 gusto
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