Padhraig Gormley

@padgorm

Human geneticist at MGH/Harvard/Broad Institute.

Boston, MA
Vrijeme pridruživanja: prosinac 2010.
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  1. proslijedio/la je Tweet
    4. srp 2019.

    1/3 Check out our 2 years of work with a large team of geneticists, protein experts and chemists at lead by We present the first systematic annotation of disease associated protein features for 1,300 mendelian disorder genes ->

    Insights into protein structural, physicochemical, and functional consequences of missense variants in 1,330 disease-associated ...
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  2. 29. kol 2019.

    Incredible job , 👏👏 (both the science and the communication of it).

    1:58
    Ben Neale, senior co-author of the paper “Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior,” provides perspective on the scientific findings: “What did this study find?” (1/6)
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  3. proslijedio/la je Tweet
    6. kol 2019.

    Our new preprint comparing polygenic and clinical risk scores and their impact on age at onset of cardiometabolic diseases and common cancers, with

    1 reply 44 proslijeđena tweeta 67 korisnika označava da im se sviđa
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  4. proslijedio/la je Tweet
    1. svi 2019.

    With continually growing QTL resources, nearly every variant is nominally associated to some molecular trait. We highlight increased caution for GWAS/QTL integration, survey recent GWASs and provide a visualization strategy.

    6 replies 115 proslijeđenih tweetova 281 korisnik označava da mu se sviđa
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  5. proslijedio/la je Tweet
    28. sij 2019.

    The gnomAD preprint is out! We aggregated 125,748 exomes and 15,708 genomes into a public resource of >240M high quality variants, available at (1/5).

    20 replies 363 proslijeđena tweeta 634 korisnika označavaju da im se sviđa
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  6. proslijedio/la je Tweet
    11. stu 2018.

    Analysis from and colleagues examining 162 PRS across 551 traits in including phenomewide analysis of

    27 proslijeđenih tweetova 41 korisnik označava da mu se sviđa
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  7. proslijedio/la je Tweet
    26. lis 2018.

    The paper to our “PINES” algorithm to prioritize functional non-coding variants is out today! Excellent work by , fun collaboration with Shamil Sunyaev 1/n

    Bodea, , , Sunyaev and co present PINES for predicting the functional impact of non-coding variants
    1 reply 1 proslijeđeni tweet 6 korisnika označava da im se sviđa
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  8. proslijedio/la je Tweet
    26. ruj 2018.

    The latest paper from the Deciphering Developmental Disorders project is published today! Led by , it shows that common genetic variants contribute to risk of rare, severe, neurodevelopmental disorders, traditionally thought to be monogenic.

    99 proslijeđenih tweetova 141 korisnik označava da mu se sviđa
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  9. proslijedio/la je Tweet
    28. kol 2018.

    We conducted the largest genetic study in Peru to date, and showed Peru has a unique genetic heritage even comparing to its neighboring countries!

    6 proslijeđenih tweetova 8 korisnika označava da im se sviđa
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  10. proslijedio/la je Tweet
    15. kol 2018.

    Beautiful to see all weights shared, and so easy to access

    Download the files here:
    1 proslijeđeni tweet 6 korisnika označava da im se sviđa
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  11. proslijedio/la je Tweet
    1. kol 2018.

    We're thrilled to announce a re-analysis of the UK Biobank GWAS, expanding the traits to 4,203 (up from 2,419) as well as female and male specific results. As with our previous analyses, all the results and code are freely available. Come learn more at

    6 replies 170 proslijeđenih tweetova 308 korisnika označava da im se sviđa
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  12. proslijedio/la je Tweet
    25. lip 2018.

    1) Excited, that the study I led on de novo variants (DNVs) in neurodev. disorders (NDDs) with epilepsy is now out in .

    5 replies 20 proslijeđenih tweetova 49 korisnika označava da im se sviđa
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  13. proslijedio/la je Tweet
    22. lip 2018.
    Odgovor korisniku/ci

    Cases: Sequenced at Mayo Controls: Sequenced/QC’ed at Broad Institute (ExAC/gnomAD) Unable to show lack of inflation because only studied ~20 genes. This ‘case-only’ approach much cheaper but lots of potential for artifacts. Cc ,

    In this case-control study, researchers use registry data to assess associations between inherited germline mutations in 21 cancer predisposition genes and risk of pancreatic cancer. Learn more:
    11 proslijeđenih tweetova 20 korisnika označava da im se sviđa
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  14. proslijedio/la je Tweet
    21. lip 2018.

    A six-year collaboration led by , , and colleagues from more than 600 institutions worldwide sheds light on the genetic links between 25 psychiatric and neurological disorders.

    50 proslijeđenih tweetova 82 korisnika označavaju da im se sviđa
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  15. proslijedio/la je Tweet
    21. lip 2018.

    Delighted to see our new paper on genetics of all things brain out in ! Six years' worth of effort at and , looked at genomic data from 265,000 patients and 784,000 controls across 25 brain disorders.

    7 replies 73 proslijeđena tweeta 168 korisnika označava da im se sviđa
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  16. 19. svi 2018.

    Great story on the decades-long journey of translating a new therapeutic target identified from basic research into a new preventative treatment for migraine.

    1 proslijeđeni tweet 8 korisnika označava da im se sviđa
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  17. proslijedio/la je Tweet
    17. svi 2018.

    The first medicine designed to prevent migraines was approved by the FDA, ushering in what many experts believe will be a new era in treatment

    396 proslijeđenih tweetova 1.075 korisnika označava da im se sviđa
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  18. proslijedio/la je Tweet
    17. svi 2018.

    At last! Aimovig (erenumab) is the 1st new drug developed specifically to prevent , and then FDA-approved for it, since Sansert (methysergide) in 1962. Not "the cure", but should help so many.

    7 replies 62 proslijeđena tweeta 140 korisnika označava da im se sviđa
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  19. proslijedio/la je Tweet
    19. svi 2018.

    Familial hyperlipidemias are often approached differently from hyperlipidemias in the general population. But our comparison of detailed phenotypes (lipidome) and outcomes (CAD risk) suggests great similarity.

    We compared detailed lipidomic profiles in dyslipidemic families and population samples with comparably defined high LDL or TG levels: the profiles were highly similar. on the driver’s seat
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  20. proslijedio/la je Tweet
    16. svi 2018.

    Our insect-eating ancestors 200-million years ago made enzymes to digest their exoskeletons. We humans carry broken copies of these genes. They broke in different ways in other mammals.

    11 replies 350 proslijeđenih tweetova 598 korisnika označava da im se sviđa
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