emedgene

@emedgene

The world’s first completely automated genetic interpretation platform

Tel-Aviv, Israel
Vrijeme pridruživanja: srpanj 2015.

Tweetovi

Blokirali ste korisnika/cu @emedgene

Jeste li sigurni da želite vidjeti te tweetove? Time nećete deblokirati korisnika/cu @emedgene

  1. prije 53 minute

    Bi-allelic LoF variants in RALGAPA1 cause profound neurodevelopmental disability, muscular hypotonia, feeding abnormalities, recurrent fever & infantile spasms, indicating significance of RalA pathway in neuronal function & brain development.

    Poništi
  2. proslijedio/la je Tweet
    Poništi
  3. proslijedio/la je Tweet

    About 5-10% of all cancer is hereditary. Learn how a can help explain hereditary cancer and assess your risk. today.

    Poništi
  4. prije 20 sati

    Early returns from era of precision medicine: despite notable success in precision oncology, its effect on patient care is modest. Offering quality care at appropriate price is the main challenge to improve population health.

    Poništi
  5. prije 23 sata

    Exome sequencing has a diagnostic utility to determine fetal structural anomalies. In current study, ES provided a positive-definitive or positive-probable diagnosis in 21/102 fetuses & reported medically actionable findings to the parents.

    Poništi
  6. 4. velj

    Researchers identify circulating cell‐free respiratory competent mitochondria in blood. It will be interesting to know the role of these circulating units in cell signaling & early detection & prognosis of various diseases.

    Poništi
  7. proslijedio/la je Tweet
    2. velj

    "This novel approach has the potential to provide significant benefit on top of currently available therapies." New therapy sotatercept shows promise in a developing drug trial that looks to treat pulmonary arterial hypertension (PAH)."

    Poništi
  8. 3. velj

    A multi-omics approach to construct molQTL map of cell types directly involved in osteoarthritis. Finds likely effector genes for osteoarthritis-associated genetic signals.

    Poništi
  9. 3. velj

    An insightful study by & others, showcasing association of copy number variations with specific phenotypes (e.g, ASD/developmental delay &#/or cancer) in patients carrying germline mutations.

    Poništi
  10. 3. velj

    BAZ2B haploinsufficiency may lead to neurodevelopmental disorder characterized by developmental delay, intellectual disability and autism spectrum disorder.

    Poništi
  11. proslijedio/la je Tweet
    2. velj

    2015 paper showing how a Chinese bat recombined with a SARS-CoV can use ACE2 to efficiently enter human airway cells and replicate, suggesting “a potential risk of SARS-CoV re-emergence from viruses currently circulating in bat populations.”

    Prikaži ovu nit
    Poništi
  12. 31. sij

    Analysis of de novo mutations across 1,465 trios from diverse populations find no significant differences in DNM rate among Europeans, Africans & Latinos, however, reveal significant reductions in Amish individuals.

    Poništi
  13. 31. sij

    The & health: an interesting paper discussing how exposures to synthetic chemicals, dietary constituents, psychosocial stressors & physical factors affect biological systems & contribute to disease manifestations.

    Poništi
  14. 31. sij

    Reappraisal of genes reported to cause congenital Long QT syndrome: Gollob et al assessed 17 gens associated with LQTS and found that more than half (9 genes) of these genes have limited or disputed evidence to support their disease causation.

    Poništi
  15. 30. sij

    : Mobile insertion elements, mtRNA interpretation, the ‘exposome’ and more. 2 weeks of research in 2 minutes .

    Poništi
  16. 30. sij

    A versatile & precise genome editing method developed by & team. The tool can directly writes the edit into a specified DNA using a Cas9 nickase fused to RT & could correct ~ 89% of known genetic variants associated with human diseases.

    Poništi
  17. 29. sij

    Analysis of current AI diagnostic field showed that < 0·1% (14 of 20 000) studies were of sufficient methodological quality for clinical implementation. Diversity & data sharing will be critical to improve accuracy of AI-based diagnosis.

    Poništi
  18. 29. sij

    Towards a comprehensive catalogue to understand role of . This review provides a deeper look into emerging technologies for discovering, characterizing & validating human enhancers at scale. Jacob Tome

    Poništi
  19. 29. sij

    Genome-wide rare variant analysis for thousands of phenotypes in >70,000 exomes from & cohorts. Singletons contributed significantly in identification of unique associations.

    Poništi
  20. 28. sij

    Lentiviral can be an effective & safe approach for X-linked chronic granulomatous disease. The therapy showed promising outcomes in six of the nine severely affected patients.

    Poništi

Čini se da učitavanje traje već neko vrijeme.

Twitter je možda preopterećen ili ima kratkotrajnih poteškoća u radu. Pokušajte ponovno ili potražite dodatne informacije u odjeljku Status Twittera.

    Možda bi vam se svidjelo i ovo:

    ·