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The recording and slides from Erin Riggs' presentation on Scoring Case-Level Data is now available https://www.clinicalgenome.org/tools/cnv-webinar/scoring-case-level-data/ …
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ClinGen proslijedio/la je Tweet
New in ClinVar - follow variants to get notified of changes in clinical interpretation!http://ncbiinsights.ncbi.nlm.nih.gov/2020/01/21/clinvar-follow-variant/ …
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ClinGen proslijedio/la je Tweet
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@ClinGenResource is an incredibly important resource funded by@genome_gov that is defining the relevance of genes in various genetic disorders, information that will be key for implementing precision medicine.https://twitter.com/genome_gov/status/1221832272745074688 …Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
This week's ClinGen's CNV Technical Standards web series topic is "Scoring Case-Level Data" presented by Erin Rooney Riggs, MS, CGC from
@GeisingerADMI on Thur Jan 30th 2pm ET https://www.clinicalgenome.org/tools/cnv-webinar/scoring-case-level-data/ …Prikaži ovu nitHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
ClinGen proslijedio/la je Tweet
@genome_gov funded@ClinGenResource has reevaluated genes linked to the heart condition long QT syndrome, disputing nine genes and confirming three. The paper is highlighted in@American_Heart news. Read more here! https://bit.ly/38AvEMgHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
The recording and slides from Dr. Andersen's presentation on the ClinGen Dosage Sensitivity Map are now available https://www.clinicalgenome.org/tools/cnv-webinar/use-of-the-clingen-dosage-sensitivity-map/ …
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ClinGen's TP53 Variant Curation Expert Panel classifications now available in ClinVar https://www.ncbi.nlm.nih.gov/clinvar/submitters/507142/ … - learn more about the TP53 Expert Panel here https://www.clinicalgenome.org/affiliation/50013/ …
@NCBI_Clinical@SharonSavageMD@meganf1Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
This week's ClinGen CNV Technical Standards web series topic is "Use of the ClinGen Dosage Sensitivity Map" presented by Dr. Erica Andersen from
@ARUPLabs on Thur Jan 23rd 2pm ET https://www.clinicalgenome.org/tools/cnv-webinar/use-of-the-clingen-dosage-sensitivity-map/ …Prikaži ovu nitHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
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 https://www.clinicalgenome.org/tools/cnv-webinar/overview-updated-technical-standards-for-constitutional-cnvs/ …
@TheACMGPrikaži ovu nitHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
What are the benefits of sharing variant data with
#ClinVar? ClinGen has compiled a list, including improved variant classification, keeping providers updated and adding value through standardization https://www.clinicalgenome.org/site/assets/files/3359/benefits_of_sharing_variant_classifications_and_supporting_evidence_with_clinvar_2018.pdf …https://twitter.com/NCBI_Clinical/status/1216785764081684480 …Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
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
@GeisingerADMI https://www.clinicalgenome.org/tools/cnv-webinar/overview-updated-technical-standards-for-constitutional-cnvs/ …Prikaži ovu nitHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
ClinGen proslijedio/la je Tweet
With More Than a Million Records, ClinVar Value Grows as Variant Classification Resourcehttps://www.genomeweb.com/molecular-diagnostics/more-million-records-clinvar-value-grows-variant-classification-resource?utm_source=addthis_shares#.Xhd9RF2LF-4.twitter …
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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 surveyhttp://bit.ly/CNVregister
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Starting next Thursday 1/16, ClinGen will host a web series to educate the community about the newly released
@TheACMG and ClinGen technical standards for interpretation and reporting of constitutional copy number variants (CNVs), learn more and register http://bit.ly/cnvseriesPrikaži ovu nitHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Did you miss ClinGen's list of
#ClinVar submission milestones yesterday? Review the highlights here https://www.clinicalgenome.org/docs/clinvar-celebrates-submission-of-one-millionth-variant/ … in celebration of one million#ClinVar submissions@NCBI_Clinical@genome_govpic.twitter.com/so3RxZ89nb
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Read more on "ClinVar Celebrates 1 Million Submissions" here https://ncbiinsights.ncbi.nlm.nih.gov/2019/12/20/clinvar-celebrates-million-submissions/ …. How has
#ClinVar impacted your practice? Tag#ClinVar and@NCBI_Clinical in your response. 16/16pic.twitter.com/PxDEPrbRjL
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Finally, thank you to all 1,436 submitters https://www.ncbi.nlm.nih.gov/clinvar/docs/submitter_list/ … who have each contributed to ClinVar’s growth through
#datasharing and the@NCBI_Clinical#ClinVar team led by Melissa Landrum who have processed all 1,025,598 records. Incredible work! 15/16Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
The most recent
#ClinVar submission from a country that was not previously represented in ClinVar was from the University of Khartoum in Sudan https://www.ncbi.nlm.nih.gov/clinvar/submitters/507301/ … 14/16Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
The most recent
#ClinVar submission from outside the United States came from the Institute of Human Genetics, Cologne University in Germany https://www.ncbi.nlm.nih.gov/clinvar/submitters/243629/ … 13/16Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
The first
#ClinVar submitter from outside the United States was Systems Biology Platform, Zhejiang California International NanoSystems Institute in China https://www.ncbi.nlm.nih.gov/clinvar/submitters/500169/ … 12/16Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi
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