ClinGen

@ClinGenResource

Sharing Data. Building Knowledge. Improving Care. NIH-funded resource established in 2013.

Vrijeme pridruživanja: svibanj 2013.

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  1. 30. sij

    The recording and slides from Erin Riggs' presentation on Scoring Case-Level Data is now available

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    21. sij

    New in ClinVar - follow variants to get notified of changes in clinical interpretation!

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    27. sij

    . is an incredibly important resource funded by that is defining the relevance of genes in various genetic disorders, information that will be key for implementing precision medicine.

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  4. 27. sij

    This week's ClinGen's CNV Technical Standards web series topic is "Scoring Case-Level Data" presented by Erin Rooney Riggs, MS, CGC from on Thur Jan 30th 2pm ET

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    funded has reevaluated genes linked to the heart condition long QT syndrome, disputing nine genes and confirming three. The paper is highlighted in news. Read more here!

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  6. 24. sij

    The recording and slides from Dr. Andersen's presentation on the ClinGen Dosage Sensitivity Map are now available

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  7. 22. sij

    ClinGen's TP53 Variant Curation Expert Panel classifications now available in ClinVar - learn more about the TP53 Expert Panel here

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  8. 20. sij

    This week's ClinGen CNV Technical Standards web series topic is "Use of the ClinGen Dosage Sensitivity Map" presented by Dr. Erica Andersen from on Thur Jan 23rd 2pm ET

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  9. 16. sij

    The slides and recording from today's CNV Technical Standards web series presentation, "Overview of the Updated Technical Standards for Constitutional CNVs" by Erin Riggs, MS, CGC are now available

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  10. 13. sij

    What are the benefits of sharing variant data with ? ClinGen has compiled a list, including improved variant classification, keeping providers updated and adding value through standardization

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  11. 13. sij

    ClinGen's CNV Technical Standards web series begins this Thurs Jan 16th with "Overview of the Updated Technical Standards for Constitutional CNVs" presented by Erin Rooney Riggs, MS, CGC from

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    9. sij
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  13. 8. sij

    If you registered for the CNV series before Jan 7, you were sent an email with call in information. If you didn't get it, email clingen@clinicalgenome.org. If you register from this point on, the call in info is available on the last page of the reg survey

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  14. 7. sij

    Starting next Thursday 1/16, ClinGen will host a web series to educate the community about the newly released and ClinGen technical standards for interpretation and reporting of constitutional copy number variants (CNVs), learn more and register

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  15. 7. sij

    Did you miss ClinGen's list of submission milestones yesterday? Review the highlights here in celebration of one million submissions

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  16. 6. sij

    Read more on "ClinVar Celebrates 1 Million Submissions" here . How has impacted your practice? Tag and in your response. 16/16

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  17. 6. sij

    Finally, thank you to all 1,436 submitters who have each contributed to ClinVar’s growth through and the team led by Melissa Landrum who have processed all 1,025,598 records. Incredible work! 15/16

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  18. 6. sij

    The most recent submission from a country that was not previously represented in ClinVar was from the University of Khartoum in Sudan 14/16

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  19. 6. sij

    The most recent submission from outside the United States came from the Institute of Human Genetics, Cologne University in Germany 13/16

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  20. 6. sij

    The first submitter from outside the United States was Systems Biology Platform, Zhejiang California International NanoSystems Institute in China 12/16

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