AJHG

@AJHGNews

The American Journal of Human Genetics

cell.com/AJHG/home
Vrijeme pridruživanja: prosinac 2011.
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    4. velj

    so sad to learn of Phil Leder's passing. He was such an important scientist and a kind man. Such an important legacy of discoveries and scientific "offspring" including Jon Seidman, , Chuxia Deng, Tony Wynshaw-Boris, countless more.

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    3. velj

    Next week! Join me, , and to learn more about how/when to use social media to achieve goals. (And, from my talk, how maybe NOT to.)

    Don't forget to register for our latest webinar, "Using Social Media as a Scientist"! The webinar will cover how to use Twitter & Reddit professionally, how to create your own podcast, & more!
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  3. proslijedio/la je Tweet
    31. sij

    Just published in , Recurrent de novo NAHR-mediated duplications in the ATAD3 gene locus cause a severe metabolic disorder through the creation of a novel fusion product. .

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  4. proslijedio/la je Tweet
    31. sij

    New paper in is a good reminder that duplications can (1) have complex genic effects and (2) explain unsolved rare diseases: Recurrent 67kb dups of ATAD3 gene cluster ➡️ dominant negative fusion protein ➡️ severe metabolic disorder Nice study!

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  5. 30. sij

    New! Lo & colleagues delineate the process of cell-free DNA fragmentation

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  6. 30. sij

    New! Take a deep dive into the ATAD3 locus with Gunning et al.

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  7. 30. sij

    New today! Wagner et al. identify RALGAPA1 mutations as a cause of a severe neurodevelopmental disorder, providing additional support for the importance of the RalA pathway in brain development

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  8. 30. sij

    New! from Savage & colleagues identifies variant HLA-DP1 alleles as a risk factor for a rare , severe anaplastic anemia

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  9. 30. sij

    Metabolism refresher! TKFC is a bifunctional enzyme required for fructose metabolism & the generation cyclic FMN.

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  10. 30. sij

    New today! Rahman & colleagues identify an inborn error of metabolism caused by bi-allelic TFKC variants

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  11. 30. sij

    New! Wang et al. present PLASMA (Population Allele-Specific Mapping), a method that integrates QTL and asQTL data & improves fine-mapping accuracy

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    30. sij

    In Part 2 of her “How I Work” interview, Dana Crawford, PhD, ASHG Board member & Associate Professor at , discusses how she uses science communication in her career.

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  13. 30. sij

    Great post on work from & colleagues! After you've read post, check out the paper:

    We're having our first "meeting-free week" at IGM and it's done wonders for my productivity! I had time to read. Today on KidsGenomics, I review a new paper on WES in a highly consanguineous population:
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  14. proslijedio/la je Tweet
    28. sij

    & Subaru have list of best

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  15. 24. sij

    Need help interpreting your TWAS results? This exciting work from & colleagues is now online in AJHG! Check out the final paper here:

    Fresh biorxiv from Oxford: how often, when you see a GWAS/cis-eQTL colocalization, is the e-gene causal for the signal? Using metQTL loci as a "truth set", PPV~10%. Finding a cis-eQTL at a GWAS signal is a clue to causality but far from conclusive.
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  16. 24. sij

    New this week! Thomas et al. identify TTC12 dysfunction as a cause of primary ciliary dyskinesia

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    24. sij

    We love cool science images, especially those from our members' research! describes new neural functioning findings by Hugo Bellen and colleagues, recently published in .

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    23. sij

    "Genetics and genomics research needs the greater innovation and creativity that happens with diverse voices coming from different backgrounds," said President Anthony Wynshaw-Boris. Read our new policy statement, now online.

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  19. proslijedio/la je Tweet
    22. sij

    New on Inside AJHG: New tools like GxEMM can help address long-standing biomedical questions about disease heterogeneity, explains Andy Dahl in this month's feature. Read more about his recently published work.

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  20. proslijedio/la je Tweet
    17. sij

    Your committee for online programming is meeting soon. What topics would you like to see webinars/other programs on, in 2020? More PRS? DNA and politics (generally)? Privacy concerns? The suggestion box is open!

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