Rezultati pretraživanja
  1. 8. srp 2019.

    Our paper is finally online : We found that individuals who are carriers of rare clinically significant (and large >500kb) did not improve as much as non-carriers after social skills group training 1/5

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  2. 30. sij

    Just out in preprint, our latest study : Copy number variants outperform SNPs to reveal genotype-temperature association in a marine species. Get CNVs info through RADseq data

  3. 19. lip 2019.

    Provocative study from in highlights complexities of "noncoding" variants... Clustered "noncoding" in a severe pediatric GI disease actually delete TSS of an unannotated gene, likely protein-coding! Mouse models support pathogenicity

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  4. 10. stu 2019.

    “It is important to recognize that no singular algorithm will apply in all scenarios…professional judgment should always be used when evaluating evidence & assigning a classification” in new Standards for Interpreting/Reporting ACMG

  5. 29. srp 2019.

    Our new preprint where we integrated data from , , clinical cohorts and animal models to characterized so far overlooked association between the .2 and reproductive traits.

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  6. 8. ruj 2018.

    And last in our lightning talk series on from at is Pieter Spealman, talking about the kinds of CNVs identified using .

  7. 31. sij
  8. 21. pro 2019.
  9. 30. sij
  10. 6. stu 2018.

    Polygenic risk scores and large effect show additive & interactive effects on genetic risk for : balance of common and rare variant effects to reach illness threshold.Sarah Bergen

  11. 29. stu 2019.
  12. 6. kol 2019.

    Do you want to detect using data? Please look our latest publication, a method to screen populations for CNV using GBS.

  13. 17. srp 2018.
  14. 12. ožu 2018.

    Stay up-to-date on what's happening this week at

  15. 30. sij
  16. 8. srp 2019.
  17. 26. stu 2018.

    REQUITE Report on SNP selection online! To report on the genotyping undertaken of blood samples collected in the observational study and processed by the CIGMR biobank. see: .

  18. 12. tra 2018.

    Presenter Matt Holt: “ should know that through existing , we can really detect a wide variety of abnormalities—not just but and structural —that can shed light on etiology.” 🔬👨‍⚕️

  19. 21. ruj 2017.

    Large multiallelic copy number variations in humans

  20. 18. pro 2019.

    Participants who register for the ClinGen CNV Technical Standards web series by tomorrow 12/19 will have the opportunity to participate in an optional pre-/post-series evaluation

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