Heidi Rehm
@HeidiRehm
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Genomic medicine researcher; chief genomics officer at MGH; clinical medical officer at Broad Clinical Labs @broadinstitute; Views are my own.
Boston, MA, USA
Joined June 2011
RT @GIMJournal: The #ClinGen expert curation ecosystem enables the global dissemination of evidence-based #genomics support resources https….
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We are delighted to announce this year's call for applications for the NHGRI-funded MGB T32 Postdoctoral Training Program in Precision and Genomic Medicine Please RT or share w/ those who may be interested.
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RT @GA4GH: 🔥 Fireside Chat happening now!. We're on Zoom with Bartha Knoppers of McGill University and Gerardo Jiménez-Sánchez of Genómica….
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I know many of you have been awaiting us launching transcript expression data in gnomAD. We were waiting for the GTEx v10 release which is now out so we are finally able to launch this. Enjoy!!.
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Just started using Buffer to simultaneously post on @bsky.app, LinkedIn, and X/Twitter as I make my gradual shift away from the toxic and biased world of X. .
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Forthcoming guidance will recommend labs report VUS subclasses. We share experience of 4 labs including rates of reclassification of VUS subclasses. By highlighting VUS-high and downplaying VUS-low, this will be game-changing for dx genetic testing.
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RT @GA4GH: 📝The Health Data Sharing, Privacy, and Regulatory Forum — formerly known as the GDPR & International Health Data Sharing Forum —….
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See our paper in GIM here. If you publish on variants, PLEASE use or even better, just submit them to ClinVar before article submission (you can request a 6 month embargo), to both validate your variant naming AND make them findable by all!.
GIM's Senior Technical Editor Peter Freeman collaborated with other experts on "Standardizing variant naming in literature with VariantValidator to increase diagnostic rates", now available in Nature Genetics
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It’s great to have these more refined allele frequencies from the African/AA population represented in gnomAD. Thank you team!!.
I'm excited to announce that we have generated local ancestry informed allele frequencies for the inferred African/African American genetic ancestry group of gnomAD v4.0, live now on the browser!.
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RT @ClinGenResource: Available today in @GIMJournal, a special article from @ClinGenResource “The Clinical Genome Resource (ClinGen): Advan….
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RT @Nicky_Mulder: I am pleased to announce the establishment of an African Bioinformatics Institute thanks to funding from Wellcome Trust a….
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RT @CGM_MGH: The deadline to apply for a full time faculty position in Neurogenetics at the @CGM_MGH and @MGHNeurology is October 15th! Sen….
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RT @pnatarajanmd: Terrific #WMIF2024 panel discussion on 'Earliest Detection' chaired by @JimBrinkMD & D. Louis (@MassGenBrigham Radiology….
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A wonderful meeting with so many folks dedicated to advancing genomics through collaboration and open data sharing.
GA4GH 12th Plenary 🤩. 🇦🇺: Melbourne, Australia and online.👥: 650 registrants.🌐: 44 countries.💼: 3 meetings, 65 sessions. Big thanks to our co-host, @AusGenomics 🤝. 🇸🇪: 13th Plenary will be in Uppsala, Sweden. Read the full Plenary recap here:
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RT @dgmacarthur: What a delight to be kicking off our inaugural @OurDNA_program symposium in Melbourne with a keynote from @HeidiRehm discu….
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RT @GA4GH: Welcome to GA4GH 12th Plenary! This week, we are gathering to advance responsible sharing of genomic and related health data, fo….
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As part of @GREGoR_research , we are excited to announce new guidance to encourage clinical labs to report novel candidate genes during clinical testing. We give criteria for triaging, sharing, and reporting novel genes through various methods.
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RT @GA4GH: GA4GH 12th Plenary is next month! 🎉 You can now register for virtual participation. In-person registration ends 2 September. #….
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Wonderful news!!! Congrats @aaronquinlan.
When I started grad school in 2004, I never could have imagined I would write the following sentence. I am honored and thrilled to be the Chairperson of Human Genetics @UUtah! . I look forward to future excellence w/ current & new scientists in our amazing department. Stay tuned!.
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