Alex Peluffo

@Alex_Peluffo

🇫🇷🇺🇸 Project Leader Genetic Data - Omics, Stats & A.I. - Ph.D. & M.S. in Genetics, M.A in Philosophy - Grew up in the Bay Area, Now in Paris

Paris, France
Vrijeme pridruživanja: listopad 2015.

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  1. proslijedio/la je Tweet
    prije 13 sati

    We estimated the age of mutation for more than 45 million SNPs in the human genome: Find the paper on :

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  2. proslijedio/la je Tweet
    30. sij

    Comprendre les émergentes + Maîtriser leurs usages et leurs => Pour construire une sagesse de lancement du cycle d’études TESaCo, soutenu par à l’

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  3. proslijedio/la je Tweet
    31. sij

    Demain ? Quels défis sociaux, économiques et politiques posent les avancées en ? Comment anticiper pour mieux maîtriser ? , project leader genetic data analyses chez

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  4. proslijedio/la je Tweet
    15. sij

    The graph you've been waiting for... For all you burger and imitation burger aficionados , great by (w/ many surprise ingredients)

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  5. proslijedio/la je Tweet

    Exercise (leisure time physical activity) and its intensity are associated with a lower incidence of many types of , from 9 cohorts, > 750,000 people by 's Charles Matthews and colleagues

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  6. proslijedio/la je Tweet
    9. pro 2019.

    🏅Remise de l'ordre national🇨🇵 du mérite à Virginie Courtier par Pierre-Henri Gouyon ! 👏 Bravo à notre nouveau chevalier ! 🎆

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  7. proslijedio/la je Tweet
    3. pro 2019.

    5th & final publication from PhD detailing a new method in T-Coffee for huge MSA (>1.4M seq). Very special thanks to for his mentorship over the years and all the authors & reviewers. Validating the method would have been unfathomably arduous without .

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  8. proslijedio/la je Tweet
    25. stu 2019.

    fastGWA is ~89 times faster and only requires ~5% of RAM compared to BOLT-LMM-Inf in a data set with n=456,422 and m=8,531,416, and even ~4 times faster than PLINK2. fastGWA summary statistics for >2000 traits from the UK Biobank are available at .

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  9. proslijedio/la je Tweet
    24. stu 2019.
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  10. proslijedio/la je Tweet
    19. stu 2019.

    What an amazing story on BCL11A (the target of the CRISPR Rx here) "Medicines that mimic protective human mutations" From GWAS discovery 2007 (thx ) to mechanism 2008 (thx ) to now 2 patients treated (thx )

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  11. proslijedio/la je Tweet
    17. stu 2019.

    Awesome paper: if a promoter sequence is replaced by a random 100 bp DNA sequence, E. coli can restore activity in 60% of the cases with only one single mutation. Random sequences rapidly evolve into de novo promoters

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    Online : Structural variation in the sequencing era

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  13. proslijedio/la je Tweet
    13. stu 2019.

    And the award for best statistical method that leverages GWAS summary statistics to gain insights into the genetic basis of complex traits and diseases goes to:

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  14. proslijedio/la je Tweet
    6. stu 2019.

    So, paper below getting lot of press *Single* presenilin mutation carrier Disease onset later than expected, labelled resistant Claim: resistance due to homozygosity for a mutation in APOE My post-pub peer review: Is claim true? No way to know with n=1 Is claim new? I guess

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  15. proslijedio/la je Tweet

    A potential protective mutation for a very severe, familial (PSEN1) form of : the value of sequencing people of extreme phenotypes, resistant to penetrance and colleagues

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    A third of verified gene KO with CRISPR still show residual protein expression owing to translation reinitiation or exon skipping. Several proteins are still functional. The authors call for a systematic analysis of protein levels after genome editing

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  17. proslijedio/la je Tweet
    25. ruj 2019.

    Great discussion of a recent deep learning paper. Bottom line: deep learning only slightly outperforms classical models for prediction of AKI, clinical applicability still unclear

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  18. proslijedio/la je Tweet

    Our latest preprint online ... C. elegans locomotion remains stable over >200 generations of evolution despite divergence in the genetic structure of the traits over time! Thread below ⤵️. Comments are more than welcome!

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  19. proslijedio/la je Tweet
    25. ruj 2019.
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  20. proslijedio/la je Tweet
    21. ruj 2019.

    More evidence that RNAseq studies should be taken with a grain of salt.

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