Clinical Sequencing Evidence-Generating Research Consortium - Integrating genome sequencing into clinical care of diverse & medically underserved individuals
Joined March 2014
- Tweets579
- Following116
- Followers981
- Likes262
CSER retweeted
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! bit.ly/3AUgjnB via @PatientJournal
Come check out some of the great work CSER's been up to at #ASHG2021 - cser-consortium.org/stories/…
With #ACMGMtg21 around the corner, come check out what some of the work our investigators have been leading: cser-consortium.org/stories/…
Also, check out what CSER's been up to through our posters and presentations at ASHG 2020: cser-consortium.org/stories/…
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/ajhg/fulltext/S0002…
Interested in CSER's work over the past year? Check out our posters at #ASHG2019! Full schedule here: cser-consortium.org/stories/…
CSER retweeted
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
buff.ly/2q8t1QV
CSER retweeted
#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
buff.ly/2D94aBD
More in store from @hail_CSER at #ACMGMtg19, with 15 posters spanning Thursday and Friday. A full list at cser-consortium.org/stories/…
#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: acmg.expoplanner.com/index.c…
CSER retweeted
Latest from our @hail_CSER project @bcmhouston Exome sequencing disclosures in pediatric cancer care: Patterns of com... sciencedirect.com/science/ar…
CSER retweeted
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: tinyurl.com/REAsnowball to let us know what these measures mean to you and your research or clinical practice
CSER retweeted
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
buff.ly/2vbEUrb
Fresh off the presses: A look into CSER's experiences with secondary findings led by @mraganhart, in @GIMJournal - nature.com/articles/s41436-0…
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 bit.ly/2Np6w4e
CSER retweeted
#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
buff.ly/2KtVLIy
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 go.nature.com/2OAcjke @DanaVuzman @UDNconnect @harvardmed @BWHResearch @Genomes2People
👇👇
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
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. cell.com/ajhg/fulltext/S0002…