Still time to sign up for the talk tomorrow!
#philsky #philsci #STS #humangenetics #sciencesky #HPBio
#philsky #philsci #STS #humangenetics #sciencesky #HPBio
Prof. Katharina Schramm (Universität Bayreuth) kicks off our speaker series with the talk “We are all Africans! Antiracist projects and racializing practices in South Africa post-apartheid genomics” on October 21st. You can register to attend via zoom here: hugera.org/lecture-seri...
October 20, 2025 at 1:02 PM
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#ASHG25 may be over, but the learning continues:
🖥️ On-demand access to recorded sessions is coming soon!
Learn at your pace, anytime, anywhere. Stay tuned for details! #ASHG #HumanGenetics
🖥️ On-demand access to recorded sessions is coming soon!
Learn at your pace, anytime, anywhere. Stay tuned for details! #ASHG #HumanGenetics
October 18, 2025 at 8:21 PM
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Missing #ASHG25 doesn’t mean missing out! GenomeCast is your LIVE front-row seat to the science, stories, and insights erupting during our time in Boston. What's to gain:
✅Live broadcast
✅App access for live Q&A and eposters
Register Now: meetings.ashg.org/event/ASHG25... #ASHG #HumanGenetics
✅Live broadcast
✅App access for live Q&A and eposters
Register Now: meetings.ashg.org/event/ASHG25... #ASHG #HumanGenetics
October 3, 2025 at 9:27 PM
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Curious to hear thoughts from #popgen, #humangenetics, #genomics folks on recent paper:
www.pnas.org/doi/10.1073/...
"Directed mutation" in specific human pop'ns seems unlikely to me. DM didn't stand up as proposed in bacteria, but there are hot spots shaped by past selection. Plausible here?
www.pnas.org/doi/10.1073/...
"Directed mutation" in specific human pop'ns seems unlikely to me. DM didn't stand up as proposed in bacteria, but there are hot spots shaped by past selection. Plausible here?
September 11, 2025 at 4:41 PM
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This is going to be a nice read for tomorrow's flight to LA :)
#humangenetics #genetics #splicing #RareDisease #Nephsky #Medsky #ASHG
#humangenetics #genetics #splicing #RareDisease #Nephsky #Medsky #ASHG
🔎Looking for guidance for interpreting splice-altering variants?
Check out the latest from Sullivan et al!
👉Data-driven insights to inform splice-altering variant assessment
(Check out the supplement for a detailed handbook!)
Check out the latest from Sullivan et al!
👉Data-driven insights to inform splice-altering variant assessment
(Check out the supplement for a detailed handbook!)
Data-driven insights to inform splice-altering variant assessment
Predicting the functional consequences of a putative splice-altering variant (SAV)
is challenging. Here, we present a comprehensive framework for evaluating SAVs and
predicting their functional conseq...
www.cell.com
March 7, 2025 at 5:08 PM
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Let’s go Innsbruck!
Looking forward to the 35th annual meeting of the GfH, starting today
#gfh2025 #humangenetics
Looking forward to the 35th annual meeting of the GfH, starting today
#gfh2025 #humangenetics
April 2, 2025 at 8:49 AM
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Presenting an abstract at #ASHG25 will leave you with benefits lasting beyond the meeting! Gain 2️⃣ reasons why you should submit from trainee and current Program Committee member, Brooke Wolford, PhD!
📽️ youtube.com/shorts/t9HCg...
Apply: www.ashg.org/meetings/202... #ASHG #HumanGenetics
📽️ youtube.com/shorts/t9HCg...
Apply: www.ashg.org/meetings/202... #ASHG #HumanGenetics
May 9, 2025 at 9:16 PM
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Fantastic talk and nice visit from Shamil Sunyaev yesterday for our "Seminar in Precision Medicine" series! A rare variants methods buffet for us :)
#humangenetics #genetics #Nephsky #Medsky
@broadinstitute.org @columbiauniversity.bsky.social
#humangenetics #genetics #Nephsky #Medsky
@broadinstitute.org @columbiauniversity.bsky.social
December 13, 2024 at 4:57 PM
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Can human genetic evidence can improve drug development success? The latest @hggadvances.bsky.social article by @brent-richards.bsky.social & co. uses IntAct, a protein interaction database, to explore this question: www.cell.com/hgg-advances... #ASHG #HumanGenetics #GeneticsDiscoveries
January 31, 2025 at 6:25 PM
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That’s a wrap on #ESHG2025—grazie, Milan! 🇮🇹
Thanks to everyone who stopped by the Dovetail booth. It was a pleasure connecting with you!
Missed us at the event? Let’s chat: go.dovetailgenomics....
See you next year in Gothenburg for #ESHG2026! 🇸🇪
#Genomics #HumanGenetics #StructuralVariation
Thanks to everyone who stopped by the Dovetail booth. It was a pleasure connecting with you!
Missed us at the event? Let’s chat: go.dovetailgenomics....
See you next year in Gothenburg for #ESHG2026! 🇸🇪
#Genomics #HumanGenetics #StructuralVariation
May 27, 2025 at 5:57 PM
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🎖️Congratulations to Harry (Hal) Dietz, MD, winner of the ASHG 2025 Lifetime Achievement Award! Learn more about the award and Dr. Dietz's work: www.ashg.org/membership/a... #ASHG #HumanGenetics
August 7, 2025 at 5:22 PM
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In the spirit of sharing negative results: I thought this might help in visualising which principal components are most relevant in determining population structure (it was, for the most part, not) #humangenetics
May 16, 2025 at 11:31 AM
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Experts in #Hematology and #HumanGenetics at #CincinnatiChildrens discuss advances in #GeneticTesting to diagnose red blood cell membrane disorders. @cincykidsheart.bsky.social journals.lww.com/co-hematolog...
Advances on the genetic basis of red cell membrane disorders : Current Opinion in Hematology
es and make suggestions regarding genotypic/phenotypic evaluation with the goal of early diagnosis of patients with HHA before inappropriate treatment or complications occur.
Recent findings
Widesp...
journals.lww.com
September 2, 2025 at 9:04 PM
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Again another fantastic contribution to #humangenetics by @gleesonlab.bsky.social !! 👏👏👏
Nature research paper: The contribution of de novo coding mutations to meningomyelocele
https://go.nature.com/3RlHUsk
https://go.nature.com/3RlHUsk
The contribution of de novo coding mutations to meningomyelocele - Nature
Exome sequencing of 851 trios from more than 2,500 individuals finds 187 genes with de novo mutations that contribute to meningomyelocele (spina bifida) and highlights critical pathways required for neural tube closure.
go.nature.com
March 26, 2025 at 8:37 PM
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Smiles like these? Just one reason to register for #ASHG25! 😄
This October, the #humangenetics community is gathering in Boston, MA, to discuss breakthroughs in the field, fresh ideas, and shaping the future—together.
🧬 Secure your spot: www.ashg.org/meetings/202... #ASHG
This October, the #humangenetics community is gathering in Boston, MA, to discuss breakthroughs in the field, fresh ideas, and shaping the future—together.
🧬 Secure your spot: www.ashg.org/meetings/202... #ASHG
June 13, 2025 at 7:15 PM
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Thank you for the shoutout ! Looking forward to chat with you about APOL1!
#APOL1 #FSGS #nephroticsyndrome #humangenetics
#APOL1 #FSGS #nephroticsyndrome #humangenetics
Join GlomCon this Sunday
APOL1 Kidney Disease: Genetic Basis and its Modifications by Dr. Simone Sanna-Cherchi
ID: 875 5077 1266
Passcode 202122
sign up 👉 bit.ly/signup-glomcon
#GlomCon
APOL1 Kidney Disease: Genetic Basis and its Modifications by Dr. Simone Sanna-Cherchi
ID: 875 5077 1266
Passcode 202122
sign up 👉 bit.ly/signup-glomcon
#GlomCon
March 4, 2025 at 9:59 PM
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We are looking for a PhD fellow in Ancient Population Genomics @GeoGenetics. #PhD #greatopportunity #HumanGenetics http://employment.ku.dk/phd/?show=858301
PhD-positions
employment.ku.dk
November 23, 2024 at 9:27 AM
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@vijayganesh.bsky.social, @maggie-arriaga.bsky.social, & co. of @ajhgnews.bsky.social latest article highlights RNA sequencing in rare disease diagnosis using a transcriptome-wide approach to detect minor spliceosome disorders & generate variant-to-function interpretations. #ASHG #HumanGenetics
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
RNA sequencing in rare disease is conventionally used to resolve the effect of a variant
on a single gene. Here, we apply a transcriptome-wide approach to detect disorders
of the minor spliceosome. Th...
www.cell.com
September 25, 2025 at 8:46 PM
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#GenS2025 #FutureScientists #JobShadow #STEMCareers #ScienceForYouth #GenerationScience #BMRI #MBHG #DOI #SAMRC #Immunology #HumanGenetics #MedicalPhysiology #MolecularBiology #BiomedicalSciences #CERI #ClinicalAnatomy #CARMA
May 8, 2025 at 12:34 PM
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Abstract = in. Stress = out.
Submit by 5 PM U.S. ET TODAY! Don't let the deadline slip by. You've worked hard—now take the final step ⬇️⬇️⬇️
🔗 www.ashg.org/meetings/202...
#ASHG #HumanGenetics
Submit by 5 PM U.S. ET TODAY! Don't let the deadline slip by. You've worked hard—now take the final step ⬇️⬇️⬇️
🔗 www.ashg.org/meetings/202...
#ASHG #HumanGenetics
June 10, 2025 at 2:33 PM
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Children with #NF1 need more screening for #depression and more interventions to promote social support and resiliency. Congrats to co-author Dr. Elizabeth Schorry #HumanGenetics at #CincinnatiChildrens and team w/the NF Clinical Trials Consortium. Study: link.springer.com/article/10.1...
Psychosocial functioning and determinants of the health-related quality of life in children with neurofibromatosis type 1 and cognitive impairments - Journal of Neuro-Oncology
Purpose Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition associated with cutaneous and neoplastic manifestations and other physical manifestations, as well as cognitive, psych...
link.springer.com
June 5, 2025 at 12:42 PM
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Hello world! 🙌
My former group, LMAMR at the University of Oklahoma, has an open Assistant/Associate Professor position (Molecular Anthropology). Deadline Dec 1.
📣Please help spread the word! #aDNA #epigenetics #microbiome #pathogens #eDNA #sedaDNA #humangenetics
apply.interfolio.com/156182
My former group, LMAMR at the University of Oklahoma, has an open Assistant/Associate Professor position (Molecular Anthropology). Deadline Dec 1.
📣Please help spread the word! #aDNA #epigenetics #microbiome #pathogens #eDNA #sedaDNA #humangenetics
apply.interfolio.com/156182
Apply - Interfolio
{{$ctrl.$state.data.pageTitle}} - Apply - Interfolio
apply.interfolio.com
November 19, 2024 at 9:40 PM
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🗓️TOMORROW'S THE DAY!
Learn how the NIH's PRIMED Consortium is advancing equitable polygenic risk predictions via its methods and tools w/ speakers Iftikhar Kullo, MD, & blueyedgenes.bsky.social, MPH, PhD.
#ASHG #HumanGenetics #GeneticsDiscoveries
Learn how the NIH's PRIMED Consortium is advancing equitable polygenic risk predictions via its methods and tools w/ speakers Iftikhar Kullo, MD, & blueyedgenes.bsky.social, MPH, PhD.
#ASHG #HumanGenetics #GeneticsDiscoveries
January 14, 2025 at 4:31 PM
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@hggadvances.bsky.social latest article applies Breasi-CRISPR, an approach that couples in utero electroporation and CRISPR editing, to model Megalencephaly Postaxial Polydactyly Polymicrogyria Hydrocephalus (MPPH) syndrome: www.cell.com/hgg-advances... #ASHG #GeneticsDiscoveries #HumanGenetics
August 28, 2025 at 8:10 PM
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