CSER
@hail_CSER
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Clinical Sequencing Evidence-Generating Research Consortium - Integrating genome sequencing into clinical care of diverse & medically underserved individuals
Joined March 2014
Shout out to @hadleyssmith @SMorain @hail_CSER for leading the effort on developing a model of patient perceived utility of genomic sequencing. The model development article is out now! https://t.co/O9DZpbwnsm via @PatientJournal
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Come check out some of the great work CSER's been up to at #ASHG2021 -
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With #ACMGMtg21 around the corner, come check out what some of the work our investigators have been leading:
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Also, check out what CSER's been up to through our posters and presentations at ASHG 2020:
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Out now online! The CSER and eMERGE effort on Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies
cell.com
Harmonization of variant pathogenicity classification across laboratories is important for advancing clinical genomics. The two CLIA-accredited Electronic Medical Record and Genomics Network sequen...
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Interested in CSER's work over the past year? Check out our posters at #ASHG2019! Full schedule here:
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She began to talk — then mysteriously fell silent. Her parents found out why through the power of #genome sequencing at #HudsonAlpha @washingtonpost #research #collaboration #Rettsyndromeawareness
https://t.co/8IL6HvYWSF
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#HudsonAlpha scientists are finding answers for children like Violet. Violet had an unknown disease until she enrolled in the @hail_CSER project and finally got an answer. Here’s her story #undiagnosed #genomics #genetics #raredisease #Rettsyndrome
https://t.co/wjB6QXmtNA
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More in store from @hail_CSER at #ACMGMtg19, with 15 posters spanning Thursday and Friday. A full list at
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#ACMGMtg2019 today, 7:30pm in Room 606-609 of the Convention Center : A CSER-led workshop on language & literacy to equitably deliver the promise of precision medicine:
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Latest from our @hail_CSER project @bcmhouston Exome sequencing disclosures in pediatric cancer care: Patterns of com...
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Race, Ethnicity, and Ancestry. How are they defined? How are we measuring and using them in research and clinical care? The @ClinGenResource needs YOUR input! Click here: https://t.co/CXRytMdFUq to let us know what these measures mean to you and your research or clinical practice
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Did you know? #RettSyndrome affects only 1 in 10,000 worldwide. Get to know Tiana Vega of Madison, AL, diagnosed through the #HudsonAlpha @hail_CSER project. More stories coming soon! #RettSyndromeAwarenessMonth #supportlocal #ScienceForLife
https://t.co/t08Z1MSNk2
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Fresh off the presses: A look into CSER's experiences with secondary findings led by @mraganhart, in @GIMJournal -
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Out now! Learn more about us below...Descriptive commentary by Amendola et al. Stay tuned for future evidence generation
New! Read about the latest efforts from @hail_CSER to bring genomic medicine to underserved communities
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Looking forward to @agbt PH mtg next week. I just finished having fun with the annual overview slide for the Great Debate...clearly watching too many Avenger's movies with my kids! Come see experts @splon @topper @cookdeegan debate whether to reinterpret or not!
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#TBT to when we celebrated our 100th @hail_CSER diagnosis! To date, over 160 patients now have an answer, and hope, thanks to our dynamic team of scientists. Check out Tiana Vega’s story, a child we diagnosed w/ #Rettsyndrome @Rettsyndrome
https://t.co/V6VCrLXx57
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Nice work! Helpful criteria for case prioritization and associated characteristics of resource, personnel collaborations to solicit multidisciplinary expertise
Our @BWHGenetics approach to new gene discovery includes crowdsourcing among a voluntary community of engaged scholars. See article just out, with lead author @Ar_Haghighi here https://t.co/Thi161QGOs
@DanaVuzman @UDNconnect @harvardmed @BWHResearch @Genomes2People
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A notice to certain sr scientific investigators funded by public monies: a) undergo self-reflection, ask whether u may be part of the research org’s dysfunction b) admit u are c) acknowledge in a professional manner u can’t execute on all to which u committed #accountability
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An interesting model to consider and necessary to evaluate in different healthcare delivery settings.
The @GeisingerRsrch model for returning results of selected genes to participants of a large scale whole exome study. The approach bridges genomics research and implementation science. Check out the paper in @AJHGNews.
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