#humangenetics — Public Fediverse posts

A tetraploid wheat pangenome reveals genomic variation and domestication footprints

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This…
#NewsBeep #News #Science #Agriculture #AnimalGeneticsandGenomics #AU #Australia #Biomedicine #CancerResearch #GeneFunction #general #Genomics #HumanGenetics #plantgenetics
https://www.newsbeep.com/au/818300/

A tetraploid wheat pangenome reveals genomic variation and domestication footprints

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This…
#NewsBeep #News #Science #Agriculture #AnimalGeneticsandGenomics #AU #Australia #Biomedicine #CancerResearch #GeneFunction #general #Genomics #HumanGenetics #plantgenetics
https://www.newsbeep.com/au/818300/

SUMOylation enhances DNMT1 function to repress mega-intergenic RNAs and viral mimicry

Bostick, M. et al. UHRF1 plays a role in maintaining DNA methylation in mammalian cells. Science 317, 1760–1764…
#NewsBeep #News #Health #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #cellbiology #epigenetics #GB #GeneFunction #general #HumanGenetics #UK #UnitedKingdom
https://www.newsbeep.com/uk/705342/

SUMOylation enhances DNMT1 function to repress mega-intergenic RNAs and viral mimicry

Bostick, M. et al. UHRF1 plays a role in maintaining DNA methylation in mammalian cells. Science 317, 1760–1764…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Science #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #cellbiology #epigenetics #GeneFunction #general #HumanGenetics
https://www.newsbeep.com/us/777793/

SUMOylation enhances DNMT1 function to repress mega-intergenic RNAs and viral mimicry

Bostick, M. et al. UHRF1 plays a role in maintaining DNA methylation in mammalian cells. Science 317, 1760–1764…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Science #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #cellbiology #epigenetics #GeneFunction #general #HumanGenetics
https://www.newsbeep.com/us/777793/

https://www.europesays.com/uk/1104461/ SUMOylation enhances DNMT1 function to repress mega-intergenic RNAs and viral mimicry #Agriculture #AnimalGeneticsAndGenomics #Biomedicine #CancerResearch #CellBiology #Epigenetics #GeneFunction #general #HumanGenetics #Science #UK #UnitedKingdom

Genome-wide association analyses of borderline personality disorder identify 11 loci and highlight shared risk with mental and somatic disorders

Hector Institute for Artificial Intelligence in Psychiatry, Central Ins…
#NewsBeep #News #Health #Agriculture #AnimalGeneticsandGenomics #Behaviouralgenetics #Biomedicine #CancerResearch #GB #GeneFunction #general #Geneticsresearch #Genome-wideassociationstudies #HumanGenetics #psychiatricdisorders #UK #UnitedKingdom
https://www.newsbeep.com/uk/702463/

https://www.europesays.com/uk/1101654/ Genome-wide association analyses of borderline personality disorder identify 11 loci and highlight shared risk with mental and somatic disorders #Agriculture #AnimalGeneticsAndGenomics #BehaviouralGenetics #Biomedicine #CancerResearch #GeneFunction #general #GeneticsResearch #GenomeWideAssociationStudies #Health #HumanGenetics #PsychiatricDisorders #UK #UnitedKingdom

Pervasive interactions between exposures and polygenic risk can inform more effective clinical and behavioral interventions

Lewis, A. C. F. et al. Managing differential performance of polygenic risk scores across groups: real-world ex…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Health #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #GeneFunction #general #Genome-wideassociationstudies #HumanGenetics #metabolicdisorders
https://www.newsbeep.com/us/762200/

Pervasive interactions between exposures and polygenic risk can inform more effective clinical and behavioral interventions

Lewis, A. C. F. et al. Managing differential performance of polygenic risk scores across groups: real-world ex…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Health #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #GeneFunction #general #Genome-wideassociationstudies #HumanGenetics #metabolicdisorders
https://www.newsbeep.com/us/762200/

The PRECISE European initiative for cancer-vulnerability mapping and prediction

Evangelia Petsalaki Present address: Oncology Data Science, GSK, Stevenage, UK These authors contributed equally: Francesco Iorio, Mathew J.…
#Europe #EU #Agriculture #AnimalGeneticsandGenomics #Biomedicine #cancer #CancerResearch #Datamining #DrugDiscovery #European #GeneFunction #general #High-throughputscreening #HumanGenetics #Software
https://www.europesays.com/europe/91074/

https://www.europesays.com/uk/1077602/ A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner #Agriculture #AnimalGeneticsAndGenomics #Biomedicine #CancerResearch #DNASequencing #GeneFunction #general #Health #HumanGenetics #PopulationGenetics #UK #UnitedKingdom

https://www.europesays.com/uk/1076886/ Identifying critical lysines in mammalian histone H3 with high-throughput CRISPR prime editing #Agriculture #AnimalGeneticsAndGenomics #Biomedicine #CancerResearch #Epigenetics #GeneFunction #general #GeneticEngineering #HumanGenetics #Mutagenesis #Science #UK #UnitedKingdom

https://www.europesays.com/ie/575299/ Identifying critical lysines in mammalian histone H3 with high-throughput CRISPR prime editing #Agriculture #AnimalGeneticsAndGenomics #Biomedicine #CancerResearch #Éire #Epigenetics #GeneFunction #general #GeneticEngineering #HumanGenetics #IE #Ireland #Mutagenesis #Science

Perspectives on phenotype in genetic testing for early-onset atrial fibrillation

Vad OB, Vilaseca QB, Beyer AF, Paludan-Müller C, Andreasen L, Svendsen JH, et al. Prevalence of deleterious variants…
#Europe #EU #atrialfibrillation #Bioinformatics #Biomedicine #Cardiomyopathies #Cytogenetics #European #GeneExpression #general #Genetictesting #HumanGenetics #Predictivemarkers
https://www.europesays.com/europe/80182/

https://www.europesays.com/uk/1008397/ The promise of adaptive health in the United Arab Emirates and beyond #Agriculture #AnimalGeneticsAndGenomics #Biomedicine #CancerResearch #DiseasePrevention #Epigenomics #GeneFunction #general #Health #Healthcare #HumanGenetics #UK #UnitedKingdom

https://www.europesays.com/ie/519441/ The promise of adaptive health in the United Arab Emirates and beyond #Agriculture #AnimalGeneticsAndGenomics #Biomedicine #CancerResearch #DiseasePrevention #Éire #Epigenomics #GeneFunction #general #Health #HealthCare #Healthcare #HumanGenetics #IE #Ireland

Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients

Pitcher A, Spata E, Emberson J, Davies K, Halls H, Holland L, et al. Angiotensin receptor blockers and…
#Europe #EU #Aorticdiseases #Bioinformatics #Biomedicine #Cytogenetics #European #GeneExpression #general #Geneticcounselling #Genetictesting #HumanGenetics
https://www.europesays.com/europe/60014/

Age distinguishes selection from causation in cancer genomes

Defining the carcinogenic effect of mutations We defined the carcinogenic effect of a mutation by its influence on…
#NewsBeep #News #Health #Agriculture #AnimalGeneticsandGenomics #Biomedicine #cancer #CancerResearch #GB #GeneFunction #general #Genetics #HumanGenetics #UK #UnitedKingdom
https://www.newsbeep.com/uk/570558/

Genetic association and machine learning improve the prediction of type 1 diabetes risk

Ethics statement The use of human genetic data in this study was approved by the University of California,…
#NewsBeep #News #Health #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #GB #GeneFunction #general #Geneticsresearch #Genome-wideassociationstudies #HumanGenetics #type1diabetes #UK #UnitedKingdom
https://www.newsbeep.com/uk/560489/

Telomere-to-telomere genome assemblies and population resequencing of diploid and allotetraploid peanut varieties

Assembly and annotation of six representative peanut genomes To determine the genome structure and genetic divers…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Science #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #GeneFunction #general #Genomeassemblyalgorithms #Genome-wideassociationstudies #HumanGenetics
https://www.newsbeep.com/us/607354/

Telomere-to-telomere genome assemblies and population resequencing of diploid and allotetraploid peanut varieties

Assembly and annotation of six representative peanut genomes To determine the genome structure and genetic divers…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Science #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #GeneFunction #general #Genomeassemblyalgorithms #Genome-wideassociationstudies #HumanGenetics
https://www.newsbeep.com/us/607354/

https://www.europesays.com/ie/452505/ Telomere-to-telomere genome assemblies and population resequencing of diploid and allotetraploid peanut varieties #Agriculture #AnimalGeneticsAndGenomics #Biomedicine #CancerResearch #Éire #GeneFunction #general #GenomeAssemblyAlgorithms #GenomeWideAssociationStudies #HumanGenetics #IE #Ireland #Science

Revisiting penetrance in an era of genomic screening

Penetrance is widely understood to be “the conditional probability R(xg) that an individual with a given genotype g…
#Europe #EU #Bioinformatics #Biomedicine #Cytogenetics #European #GeneExpression #general #HumanGenetics #Populationgenetics #Riskfactors
https://www.europesays.com/europe/19175/

https://www.europesays.com/uk/892487/ De novo formation of cis-regulatory contacts in the absence of NIPBL-driven chromatin loop extrusion #Agriculture #AnimalGeneticsAndGenomics #Biomedicine #CancerResearch #Epigenetics #GeneFunction #general #HumanGenetics #MolecularBiology #Science #UK #UnitedKingdom

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

Genetic association analysis We identified the recessive form of RNU2-2 syndrome through a joint statistical analysis of the…
#NewsBeep #News #Health #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #GB #GeneFunction #general #Genetics #HumanGenetics #Neurodevelopmentaldisorders #UK #UnitedKingdom
https://www.newsbeep.com/uk/504494/

https://www.europesays.com/uk/861591/ Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder #Agriculture #AnimalGeneticsAndGenomics #Biomedicine #CancerResearch #GeneFunction #general #Genetics #Health #HumanGenetics #NeurodevelopmentalDisorders #UK #UnitedKingdom

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

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

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

Two-decade trends in prenatal genetic testing in Japan https://www.byteseu.com/1840397/ #GeneExpression #GeneFunction #GeneTherapy #GeneticTesting #GeneticsResearch #HumanGenetics #Japan #MolecularMedicine

A multi-dimensional framework for establishing and managing a genomic newborn screening program

The above-described methodology resulted in a multi-dimensional framework for a gNBS program consisting of 18 screening criteria (Table 1)…
#NewsBeep #News #Health #AU #Australia #bioinformatics #Biomedicine #Cytogenetics #Ethics #GeneExpression #general #Geneticsresearch #HumanGenetics #MetabolicDisorders #Psychology
https://www.newsbeep.com/au/511045/

A multi-dimensional framework for establishing and managing a genomic newborn screening program

The above-described methodology resulted in a multi-dimensional framework for a gNBS program consisting of 18 screening criteria (Table 1)…
#NewsBeep #News #Health #AU #Australia #bioinformatics #Biomedicine #Cytogenetics #Ethics #GeneExpression #general #Geneticsresearch #HumanGenetics #MetabolicDisorders #Psychology
https://www.newsbeep.com/au/511045/

https://www.europesays.com/ie/361595/ A multi-dimensional framework for establishing and managing a genomic newborn screening program #Bioinformatics #Biomedicine #Cytogenetics #Éire #ethics #GeneExpression #general #GeneticsResearch #Health #HumanGenetics #IE #Ireland #MetabolicDisorders #psychology

https://www.europesays.com/uk/789312/ Three-dimensional genome reorganization foreshadows zygotic genome activation in Drosophila #Agriculture #AnimalGeneticsAndGenomics #Biomedicine #CancerResearch #Embryogenesis #Epigenetics #Epigenomics #GeneFunction #general #HighThroughputScreening #HumanGenetics #Science #UK #UnitedKingdom

Genome-wide association analyses highlight the role of the intestinal molecular environment in human gut microbiota variation

Ethical considerations The current study has been approved by the Swedish Ethical Review Authority (DNR 20…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Health #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #Epidemiology #GeneFunction #general #Geneticassociationstudy #HumanGenetics #microbiology
https://www.newsbeep.com/us/467663/

Genome-wide association analyses highlight the role of the intestinal molecular environment in human gut microbiota variation

Ethical considerations The current study has been approved by the Swedish Ethical Review Authority (DNR 20…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Health #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #Epidemiology #GeneFunction #general #Geneticassociationstudy #HumanGenetics #microbiology
https://www.newsbeep.com/us/467663/

Genome-wide association analyses highlight the role of the intestinal molecular environment in human gut microbiota variation

Ethical considerations The current study has been approved by the Swedish Ethical Review Authority (DNR 2022-06137-01, DNR 2024-01992-02).…
#Environment #agriculture #AnimalGeneticsandGenomics #Biomedicine #cancerresearch #Epidemiology #GeneFunction #general #Geneticassociationstudy #HumanGenetics #microbiology
https://www.europesays.com/2775928/

p53 inactivation drives breast cancer metastasis to the brain through SCD1 upregulation and increased fatty acid metabolism

Harbeck, N. et al. Breast cancer. Nat. Rev. Dis. Primers 5, 66 (2019). Article  PubMed  Google Scholar  Chen,…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Science #Agriculture #AnimalGeneticsandGenomics #Biomedicine #breastcancer #CancerResearch #GeneFunction #general #HumanGenetics #Metastasis #personalizedmedicine
https://www.newsbeep.com/us/376551/

p53 inactivation drives breast cancer metastasis to the brain through SCD1 upregulation and increased fatty acid metabolism

Harbeck, N. et al. Breast cancer. Nat. Rev. Dis. Primers 5, 66 (2019). Article  PubMed  Google Scholar  Chen,…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Science #Agriculture #AnimalGeneticsandGenomics #Biomedicine #breastcancer #CancerResearch #GeneFunction #general #HumanGenetics #Metastasis #personalizedmedicine
https://www.newsbeep.com/us/376551/

Proteome-wide model for human disease genetics

Statistics and reproducibility This study is based on analysis of large-scale sequencing and variant annotation datasets (UniRef58, UKBB17,…
#NewsBeep #News #Health #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #Computationalbiologyandbioinformatics #GB #GeneFunction #general #Geneticassociationstudy #HumanGenetics #Neurodevelopmentaldisorders #UK #UnitedKingdom
https://www.newsbeep.com/uk/281176/

Adenine DNA methylation associated with transcriptionally permissive chromatin is widespread across eukaryotes

Iyer, L. M., Abhiman, S. & Aravind, L. Natural History of Eukaryotic DNA Methylation Systems, Vol. 101 (Elsevier,…
#NewsBeep #News #Science #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #epigenetics #Epigenomics #GB #GeneFunction #generegulation #general #HumanGenetics #UK #UnitedKingdom
https://www.newsbeep.com/uk/272070/

https://www.europesays.com/ie/140123/ ParaRef: a decontaminated reference database for parasite detection in ancient and modern metagenomic datasets | Genome Biology #AnimalGeneticsAndGenomics #Bioinformatics #Éire #EvolutionaryBiology #HumanGenetics #IE #Ireland #MicrobialGeneticsAndGenomics #PlantGeneticsAndGenomics #Science

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Institute of Medical Genetics, University of Zurich, Zurich, Switzerland Reza Asadollahi, Paranchai Boonsawat, Dennis Kra…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Genetics #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #GeneFunction #general #genetictesting #HumanGenetics #Neurodevelopmentaldisorders #Neuroscience #Science
https://www.newsbeep.com/us/244626/

Redefining cellular reprogramming with advanced genomic technologies

Briggs, R. & King, T. J. Transplantation of living nuclei from blastula cells into enucleated Frogs’ eggs. Proc.…
#NewsBeep #News #Genetics #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #Development #Differentiation #GeneFunction #general #HumanGenetics #Regeneration #Reprogramming #Science #UK #UnitedKingdom
https://www.newsbeep.com/uk/209164/

Meta-analysis reveals differences in somatic alterations by genetic ancestry across common cancers

Genetic ancestry is a quantitative measure of inherited genetic variation and correlates with human migration pattern…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Genetics #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #GeneFunction #general #Geneticsresearch #HumanGenetics #personalizedmedicine #Science #Tumourbiomarkers
https://www.newsbeep.com/us/233364/