#humangenetics — Public Fediverse posts

I’ll attend the #EuroNDD Workshop in Warsaw in April. Anyone around the Fediverse going there as well? —> let’s connect!

I’m looking forward to present our work at https://www.findme2care.de AND hear about all the other projects.

Also: I’ll be co-hosting an educational session and roundtable discussion titled „Building Patient Registries under the GDPR – The Good, the Bad and the Ugly“ —> there are a few seats left for conference attendees!

#humangenetics #genetics #RareDiseases #RareDisease #ERN #ERNIthaca #patientregistry

I’ll attend the #EuroNDD Workshop in Warsaw in April. Anyone around the Fediverse going there as well? —> let’s connect!

I’m looking forward to present our work at https://www.findme2care.de AND hear about all the other projects.

Also: I’ll be co-hosting an educational session and roundtable discussion titled „Building Patient Registries under the GDPR – The Good, the Bad and the Ugly“ —> there are a few seats left for conference attendees!

#humangenetics #genetics #RareDiseases #RareDisease #ERN #ERNIthaca #patientregistry

Postdoctoral Fellow Position, Hematology
NIH

See the full job description on jobRxiv: https://jobrxiv.org/job/nih-27778-postdoctoral-fellow-position-hematology/

#genomics #hematology #hematopoiesis #humangenetics #ScienceJobs #hiring #research
https://jobrxiv.org/job/nih-27778-postdoctoral-fellow-position-hematology/?fsp_sid=10193

Postdoctoral Fellow Position, Hematology
NIH

See the full job description on jobRxiv: https://jobrxiv.org/job/nih-27778-postdoctoral-fellow-position-hematology/

#genomics #hematology #hematopoiesis #humangenetics #ScienceJobs #hiring #research
https://jobrxiv.org/job/nih-27778-postdoctoral-fellow-position-hematology/?fsp_sid=10193

A postdoctoral position opening in Brest for the Genome of Europe project. #genetics #genomics #HumanGenetics #postdoc

https://www.nature.com/naturecareers/job/12846824/postdoctoral-researcher-in-human-population-genetics

A postdoctoral position opening in Brest for the Genome of Europe project. #genetics #genomics #HumanGenetics #postdoc

https://www.nature.com/naturecareers/job/12846824/postdoctoral-researcher-in-human-population-genetics

Anyone from the #humangenetics #fediverse crowd attending #ESGCT2025 in Seville these days?

We could meet and chat about our projects, genetics, the sciences in the fediverse or just get to know each other in person drinking coffee!

#bioinformatics #genetics #genomics

Anyone from the #humangenetics #fediverse crowd attending #ESGCT2025 in Seville these days?

We could meet and chat about our projects, genetics, the sciences in the fediverse or just get to know each other in person drinking coffee!

#bioinformatics #genetics #genomics

Experimental evolution in an era of molecular manipulation

Monod, J. Chance and Necessity: an Essay on the Natural Philosophy of Modern Biology (Vintage Books, 1972). Blount,…
#NewsBeep #News #Genetics #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #Experimentalevolution #GeneFunction #general #HumanGenetics #Molecularevolution #Science #UK #UnitedKingdom
https://www.newsbeep.com/uk/14338/

Experimental evolution in an era of molecular manipulation

Monod, J. Chance and Necessity: an Essay on the Natural Philosophy of Modern Biology (Vintage Books, 1972). Blount,…
#NewsBeep #News #Genetics #Agriculture #AnimalGeneticsandGenomics #AU #Australia #Biomedicine #CancerResearch #Experimentalevolution #GeneFunction #general #HumanGenetics #Molecularevolution #Science
https://www.newsbeep.com/au/11663/

Incorporating genetic data improves target trial emulations and informs the use of polygenic scores in randomized controlled trial design

Ethics statement This study complies with all relevant ethical regulations and was conducted in accordanc…
#NewsBeep #News #Genetics #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #Epidemiology #GeneFunction #general #Geneticsresearch #HumanGenetics #Randomizedcontrolledtrials #Science #UK #UnitedKingdom
https://www.newsbeep.com/uk/9054/

Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs

Identifying the structures of autism phenotypes To best reflect the complexity of presentations across autistic individuals, we identified…
#NewsBeep #News #Genetics #Agriculture #AnimalGeneticsandGenomics #Autismspectrumdisorders #Biomedicine #CancerResearch #GeneFunction #general #Geneticsresearch #HumanGenetics #Science #UK #UnitedKingdom
https://www.newsbeep.com/uk/8820/

Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy

Cancer is a genetic disease stemming from a combination of inherited and acquired mutations. Much of our understanding…
#NewsBeep #News #Genetics #Ageing #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CA #Canada #CancerResearch #GeneFunction #general #Haematologicalcancer #HumanGenetics #Science
https://www.newsbeep.com/ca/8067/

Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy

Cancer is a genetic disease stemming from a combination of inherited and acquired mutations. Much of our understanding…
#NewsBeep #News #Genetics #Ageing #Agriculture #AnimalGeneticsandGenomics #AU #Australia #Biomedicine #CancerResearch #GeneFunction #general #Haematologicalcancer #HumanGenetics #Science
https://www.newsbeep.com/au/5862/

Incorporating genetic data improves target trial emulations and informs the use of polygenic scores in randomized controlled trial design

Ethics statement This study complies with all relevant ethical regulations and was conducted in accordance with …
#NewsBeep #News #Genetics #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CA #Canada #CancerResearch #Epidemiology #GeneFunction #general #Geneticsresearch #HumanGenetics #Randomizedcontrolledtrials #Science
https://www.newsbeep.com/ca/3726/

Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals | Orphanet Journal of Rare Diseases

Of the 125 participants who began the survey (provided demographic information), 103 completed the survey and provided informa…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Artificialintelligence #AI #ArtificialIntelligence #general #HumanGenetics #Medicine/PublicHealth #Pharmacology/Toxicology #Technology
https://www.newsbeep.com/us/13713/

Mapping trait-associated cells with spatial transcriptomics

Genome-wide association studies (GWAS) have uncovered numerous genetic variants associated with complex traits. However, a critical gap remains…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Genetics #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #GeneExpression #GeneFunction #general #HumanGenetics #Science #Statisticalmethods
https://www.newsbeep.com/us/13537/

https://www.alojapan.com/1279056/the-impact-of-public-insurance-on-rrso-for-hboc-in-japan-a-nationwide-data-study/ The impact of public insurance on RRSO for HBOC in Japan: a nationwide data study #CancerGenetics #GeneExpression #GeneFunction #GeneTherapy #GynaecologicalCancer #HumanGenetics #Japan #JapanNews #JapanTopics #MolecularMedicine #news JOHBOC Registration Committee: Masami Arai (Department of Clinical Genetics, Juntendo University, Graduate School of Medicine, Tokyo, Japan), Seigo Nakamura (Division of Breast Surgical Oncology, Department of Su…

I laughed, as both the target audience and the butt of the joke

#starwarstrivia
#starwars
#HumanGenetics
#epigenetics
#evolution

https://www.smbc-comics.com/comic/lamarcked

I laughed, as both the target audience and the butt of the joke

#starwarstrivia
#starwars
#HumanGenetics
#epigenetics
#evolution

https://www.smbc-comics.com/comic/lamarcked

Auf geht’s Innsbruck #gfh2025 #humangenetics

University of Southern California: Gene Ontology Consortium releases comprehensive resource describing functions of more than 20,000 human genes. “For the first time, researchers from the Keck School of Medicine of USC, the Swiss Institute of Bioinformatics and other institutions used large-scale evolutionary modeling to integrate data on human genes with genetic data collected from other […]

https://rbfirehose.com/2025/02/28/university-of-southern-california-gene-ontology-consortium-releases-comprehensive-resource-describing-functions-of-more-than-20000-human-genes/

"The group likely responsible for the Anatolian branch of the Indo-European languages did not share the same genetic makeup as the Yamnaya. Instead, it descended from a distinct but related population, which they identify as the Caucasus–Lower Volga (CLV) group, preceding the Yamnaya and forming part of the earlier expansion of Indo-Anatolian speakers."
The IE Urheimat shifts south of the Steppe.
https://linguisticsandnonsense.wordpress.com/2025/02/18/the-genetic-origins-of-the-indo-europeans-lazaridis-et-al-2025-insights/
#Paleogenetics #AncientDNA #IndoEuropeans #Anatolian #Yamnaya #HumanGenetics

"The group likely responsible for the Anatolian branch of the Indo-European languages did not share the same genetic makeup as the Yamnaya. Instead, it descended from a distinct but related population, which they identify as the Caucasus–Lower Volga (CLV) group, preceding the Yamnaya and forming part of the earlier expansion of Indo-Anatolian speakers."
The IE Urheimat shifts south of the Steppe.
https://linguisticsandnonsense.wordpress.com/2025/02/18/the-genetic-origins-of-the-indo-europeans-lazaridis-et-al-2025-insights/
#Paleogenetics #AncientDNA #IndoEuropeans #Anatolian #Yamnaya #HumanGenetics

If you like thinking and learning about human prehistory, you'll like this interview with geneticist David Reich. Two hours on what research tells us about human origins, how modern humans relate to Neanderthals and Denisovans, ancient DNA, ancient epidemics, admixture, how genetics informs archaeology, and the spread of the Yamnaya from the steppes.

https://m.youtube.com/watch?v=Uj6skZIxPuI

#DavidReich #HumanOrigins #HumanGenetics #HumanEvolution #AncientDNA #OutOfAfrica #Prehistory #Neanderthals #Denisovans

If you like thinking and learning about human prehistory, you'll like this interview with geneticist David Reich. Two hours on what research tells us about human origins, how modern humans relate to Neanderthals and Denisovans, ancient DNA, ancient epidemics, admixture, how genetics informs archaeology, and the spread of the Yamnaya from the steppes.

https://m.youtube.com/watch?v=Uj6skZIxPuI

#DavidReich #HumanOrigins #HumanGenetics #HumanEvolution #AncientDNA #OutOfAfrica #Prehistory #Neanderthals #Denisovans

New publication: "Long genetic and social isolation in Neanderthals before their extinction"

Neanderthal genomes have been recovered from sites across Eurasia, painting an increasingly complex picture of their populations' structure that mostly indicates that late European Neanderthals belonged to a single metapopulation with no significant evidence of population structure. Here, we report the discovery of a late Neanderthal indi... #HumanGenetics https://doi.org/10.1016/j.xgen.2024.100593

The divide between modern humans and our Neanderthal cousins keeps shrinking.

' People with Neanderthal genes didn’t abruptly vanish, Akey says—their offspring just acquired more and more modern human DNA. “They were overwhelmed by waves of modern humans extending out of Africa,” he says. “The modern human population eventually absorbed the Neanderthals.” '

#paleontology #HumanGenetics #anthropology #Neanderthals

https://www.science.org/content/article/neanderthals-and-modern-humans-mingled-early-and-often

The divide between modern humans and our Neanderthal cousins keeps shrinking.

' People with Neanderthal genes didn’t abruptly vanish, Akey says—their offspring just acquired more and more modern human DNA. “They were overwhelmed by waves of modern humans extending out of Africa,” he says. “The modern human population eventually absorbed the Neanderthals.” '

#paleontology #HumanGenetics #anthropology #Neanderthals

https://www.science.org/content/article/neanderthals-and-modern-humans-mingled-early-and-often

Juliane Winkelmann and her research team have conducted the largest genetic study on #RestlessLegsSyndrome to date, opening new pathways for treatment and prevention: http://go.tum.de/548680

#humangenetics #sleepdisorders
@HelmholtzMunich
📷A.Eckert

Juliane Winkelmann and her research team have conducted the largest genetic study on #RestlessLegsSyndrome to date, opening new pathways for treatment and prevention: http://go.tum.de/548680

#humangenetics #sleepdisorders
@HelmholtzMunich
📷A.Eckert

“We show that genes of the fatty acid oxidation (FAO) pathway, the primary source of energy in the heart, are expressed more highly in healthy female than in healthy male hearts.”

#HumanGenetics #genetics

RE: https://ecoevo.social/@biorxiv_genomics/112549508290758061

Already had very interesting talks in the #Paleogenomics session and saw interesting (unsolved) clinical cases at the #dysmorphology workshop. Now on to the plenary opening…

#ESHG2024 #HumanGenetics #juhumgen #ESHG

Anyone in the fediverse going to #ESHG2024 tomorrow? Really looking forward! Not gonna lie, I’m a bit „annoyed“ that there’s so many interesting sessions going on at the same time…
Still undecided where to start tomorrow.

If you want to connect or say hi during the breaks, you might find me either at the booth of the „Junge Humangenetik“ or at our booth for #FindMe2care

#HumanGenetics #humangenetik #eshg #GfH #juhumgen

Beethoven likely didn’t die from lead poisoning, new DNA analysis reveals - Enlarge / Portrait of Beethoven by Joseph Karl Stieler, 1820. Toxocolog... - https://arstechnica.com/?p=2023745 #ludwigvonbeethoven #humangenetics #dnaanalysis #forensicdna #science #biology

Beethoven likely didn’t die from lead poisoning, new DNA analysis reveals - Enlarge / Portrait of Beethoven by Joseph Karl Stieler, 1820. Toxocolog... - https://arstechnica.com/?p=2023745 #ludwigvonbeethoven #humangenetics #dnaanalysis #forensicdna #science #biology

Curious for insights from anyone who works/ed in #HumanGenetics #HealthSciences. USBs, as part of conference swag, were pretty commonplace in the last decade at plant and animal science conferences. Bit of a wild west with no restrictions 🤠 🐎There is enough of a security concern there to fret your guts out, but I would think the risk would be a lot higher in human genetics/health sciences. Were they still handed out like candy, or was there some form of restriction? #genetics

Can anyone direct me to a good review / commentary discussing the "candidate gene approach"? Particularly in basic #biology fields, like #CellBiology, or #DevelopmentalBiology. I've seen some in the context of #HumanGenetics (e.g. GWAS), and are more on the technical aspects of it. I'm looking for a discussion of the pros and cons, particularly the biases that go with this approach. Thanks in advance.
#Genetics #Research #Science #ResearchDesign #ScienceOfScience #MolecularBiology

Registration now open for our 1st NMGN Congenital Anomalies
Cardiovascular Geneboree: From Cardiac Gene Variant to Mouse Model 🗓️ Nov 23-34, 2023🗓️ MRC Harwell Advanced Training Centre, UK (or online)! ❤️ 🧬 🐁 #RareDisease #CongenitalAnomalies #CHD #DiseaseModels #HumanGenetics Register: https://www.eventbrite.co.uk/e/congenital-anomalies-cardiovascular-geneboree-gene-variant-to-mouse-model-tickets-707821602467?aff=oddtdtcreator A workshop for #clinicians, #ClinicalGeneticists & #DevBiologists with an interest in finding new genes for #CHD & validating them in models. We are grateful to #BHF for support. Join us!

Ars Technica: Want to have your genes tested? It might be genetic https://arstechnica.com/?p=1961319 #Tech #arstechnica #IT #Technology #humangenetics #Genetics #Science #Biology

Want to have your genes tested? It might be genetic - Enlarge (credit: Malte Mueller)

People who enroll in genetic s... - https://arstechnica.com/?p=1961319 #humangenetics #genetics #science #biology

10-AUG-2023
New research shows genetic mutation known for #Alzheimer’s disease is associated with higher #fertility in women

https://www.eurekalert.org/news-releases/998315 #science #health #HumanGenetics

Sjögren KG, Olalde I, Carver S, Allentoft ME, Knowles T, et al. (2020) Kinship and social organization in Copper Age Europe. A cross-disciplinary analysis of archaeology, DNA, isotopes, and anthropology from two Bell Beaker cemeteries. PLOS ONE 15(11): e0241278. https://doi.org/10.1371/journal.pone.0241278 #OpenAccess #OA #Research #Article #Haplotypes #Mitochondria #Human #HumanGenetics #Genetics #Archaeology #Europe #Anthropology #Culture #Science @science @archaeodons @anthropology

Kinship and social organization in Copper Age Europe. A cross-disciplinary analysis of archaeology, DNA, isotopes, and anthropology from two Bell Beaker cemeteries
Sjögren KG, Olalde I, Carver S, Allentoft ME, Knowles T, et al. (2020) Kinship and social organization in Copper Age Europe. A cross-disciplinary analysis of archaeology, DNA, isotopes, and anthropology from two Bell Beaker cemeteries. PLOS ONE 15(11): e0241278. https://doi.org/10.1371/journal.pone.0241278 #OpenAccess #OA #Research #Article #Haplotypes #Mitochondria #Human #HumanGenetics #Genetics #Archaeology #Europe #Anthropology #Culture #Science @science @archaeodons @anthropology

ethical concerns are discussed in a different journal: https://www.eurekalert.org/news-releases/996964 #science #genome #HumanGenetics #genealogy #ethics

This month's Highlight explores how #migration and #admixture, in both the distant and more recent past, have shaped human #ancestry. https://doi.org/10.1093/gbe/evad077 #science #evolution #biology #genome #evolgen_paper #humangenetics

Moved back to scicomm.xyz, so time for a little re-#introduction:

I have two passions: #HumanGenetics & #dataviz.

I work in clinical genetics where I dwell in the intersection of clinical work, technical/analytical lab work and science.

At work I enjoy communicating complex science to patients & their families, after work I love digging into datasets and visualizing interesting findings with #opensource tools (mostly #rstats, some #python).

I'll share content from both realms.

'We conducted a large-scale sequencing study involving more than 13,500 families with probands with severe, probably monogenic, difficult-to-diagnose developmental disorders from 24 regional genetics services in the United Kingdom and Ireland.'
#HumanGenetics #DevelopmentDisorders

https://www.nejm.org/doi/full/10.1056/NEJMoa2209046?query=featured_home

Yes, 1000 times yes!
"researchers should not use race as a proxy for describing human genetic variation. Race is a social concept, but it is often used in genomics and genetics research as a surrogate for describing human genetic differences, which is misleading, inaccurate, and harmful."
https://www.nationalacademies.org/news/2023/03/researchers-need-to-rethink-and-justify-how-and-why-race-ethnicity-and-ancestry-labels-are-used-in-genetics-and-genomics-research-says-new-report
#Racism #STEM #genetics #genomics #HumanGenetics

Postdoctoral Fellow: Integrative Genetics in Hematologic @GLettre

Come join us in #Montreal #Canada as a #humangenetics or #bioinformatics postdoc

https://jobrxiv.org/job/university-of-montreal-27778-postdoctoral-fellow-integrative-genetics-in-hematologic/?feed_id=40374

#ScienceJobs #job
Montréal #Canada #PostdoctoralFellow
https://jobrxiv.org/job/university-of-montreal-27778-postdoctoral-fellow-integrative-genetics-in-hematologic/?feed_id=40374

Postdoctoral Fellow: Integrative Genetics in Hematologic @GLettre

Come join us in #Montreal #Canada as a #humangenetics or #bioinformatics postdoc

https://jobrxiv.org/job/university-of-montreal-27778-postdoctoral-fellow-integrative-genetics-in-hematologic/?feed_id=38624

#ScienceJobs #job
Montréal #Canada #PostdoctoralFellow
https://jobrxiv.org/job/university-of-montreal-27778-postdoctoral-fellow-integrative-genetics-in-hematologic/?feed_id=38624

Postdoctoral Fellow: Integrative Genetics in Hematologic @GLettre

Come join us in #Montreal #Canada as a #humangenetics or #bioinformatics postdoc

https://jobrxiv.org/job/university-of-montreal-27778-postdoctoral-fellow-integrative-genetics-in-hematologic/?feed_id=37402

#ScienceJobs #job
Montréal #Canada #PostdoctoralFellow
https://jobrxiv.org/job/university-of-montreal-27778-postdoctoral-fellow-integrative-genetics-in-hematologic/?feed_id=37402

Just read "Racialising genetic risk: assumptions, realities, and recommendations" by Cerdeña et al. It might be the best summary of pitfalls of 'race' in human medical genetics I've read. I specially appreciated the constructive solutions, and the attention to situations outside of the USA (even though USA examples dominate). #HumanGenetics #racism #MedicalGenetics
https://doi.org/10.1016/S0140-6736(22)02040-2

Nice to meet you on Mastodon.ca! ​🇨🇦 ​Intro:Ph.D. (Yale '87); research in #Genomics, #Cytogenetics, #Bioinformatics, #Humangenetics. Established biotech co, #Cytognomix (2009; https://www.cytognomix.com). Produce #Software to estimate #Radiation exposure (#Biodosimetry), #Chemotherapy response, interpreting #Gene #Variants, #RNA #Mechanisms, #Geostatistics #Epidemiology of COVID19. Also #Professor emeritus, adjunct in #Biochemistry & #Oncology #WesternUniversity @PeterKRogan, [email protected]