#rarevariants — Public Fediverse posts
Live and recent posts from across the Fediverse tagged #rarevariants, aggregated by home.social.
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The international comic market. Are UK price variants or foreign editions worth collecting? Explore the global market at collectorsvault.net. #ForeignEditions #UKPriceVariant #InternationalComics #CollectorsVault #GlobalMarket #RareVariants #CollectTheWorld Would you rather own one rare incentive variant or several regular covers? https://collectorsvault.net/?utm_source=dlvr.it&utm_medium=mastodon
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Distinct genetic architecture in the tails of complex traits
Data processingUKB genotype data The UKB is a prospective cohort study of approximately 500,000 participants recruited across the…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Health #Evolutionarygenetics #Geneticassociationstudy #Geneticvariation #HumanitiesandSocialSciences #multidisciplinary #Rarevariants #Science #Statisticalmethods
https://www.newsbeep.com/us/669366/ -
Distinct genetic architecture in the tails of complex traits
Data processingUKB genotype data The UKB is a prospective cohort study of approximately 500,000 participants recruited across the…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Health #Evolutionarygenetics #Geneticassociationstudy #Geneticvariation #HumanitiesandSocialSciences #multidisciplinary #Rarevariants #Science #Statisticalmethods
https://www.newsbeep.com/us/669366/ -
Sperm sequencing reveals extensive positive selection in the male germline
Ethics This study was carried out under TwinsUK BioBank ethics, approved by the North West–Liverpool Central Research Ethics…
#NewsBeep #News #Genetics #Diseasegenetics #genomeevolution #HumanitiesandSocialSciences #multidisciplinary #Rarevariants #Science #UK #UnitedKingdom
https://www.newsbeep.com/uk/204067/ -
Sperm sequencing reveals extensive positive selection in the male germline
Ethics This study was carried out under TwinsUK BioBank ethics, approved by the North West–Liverpool Central Research Ethics…
#NewsBeep #News #Genetics #AU #Australia #Diseasegenetics #genomeevolution #HumanitiesandSocialSciences #multidisciplinary #Rarevariants #Science
https://www.newsbeep.com/au/216612/ -
Hotspots of human mutation point to clonal expansions in spermatogonia
Lawson, A. R. J. et al. Somatic mutation and selection at population scale. Nature https://doi.org/10.1038/s41586-025-09584-w (2025). Maeda, H.…
#NewsBeep #News #Genetics #AU #Australia #HumanitiesandSocialSciences #multidisciplinary #Mutation #Neurodevelopmentaldisorders #Rarevariants #Science
https://www.newsbeep.com/au/214248/ -
Whole-genome sequencing of 490,640 UK Biobank participants
We integrated deep phenotyping data27 available for most UKB participants and performed genetic association analysis across selected disease…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Genetics #Geneticsresearch #Genome-wideassociationstudies #HumanitiesandSocialSciences #multidisciplinary #Next-generationsequencing #Rarevariants #Science
https://www.newsbeep.com/us/71615/ -
Whole-genome sequencing of 490,640 UK Biobank participants
We integrated deep phenotyping data27 available for most UKB participants and performed genetic association analysis across selected disease…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Genetics #Geneticsresearch #Genome-wideassociationstudies #HumanitiesandSocialSciences #multidisciplinary #Next-generationsequencing #Rarevariants #Science
https://www.newsbeep.com/us/71615/ -
STATGEN 2024 talk
Localizing Rare-Variant Association Regions via Multiple Testing Embedded in an Aggregation Tree
Jichun XieWhich variants
* Gene region
* Sliding window (fixed size)
* Varying window
DYNamic Aggregation TEsting (DYNATE) algorithm"DYNATE dynamically and hierarchically aggregates smaller genomic regions into larger ones"
https://cran.r-project.org/package=DYNATE
1/
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STATGEN 2024 talk
Localizing Rare-Variant Association Regions via Multiple Testing Embedded in an Aggregation Tree
Jichun XieWhich variants
* Gene region
* Sliding window (fixed size)
* Varying window
DYNamic Aggregation TEsting (DYNATE) algorithm"DYNATE dynamically and hierarchically aggregates smaller genomic regions into larger ones"
https://cran.r-project.org/package=DYNATE
1/
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STATGEN 2024 talk
Localizing Rare-Variant Association Regions via Multiple Testing Embedded in an Aggregation Tree
Jichun XieWhich variants
* Gene region
* Sliding window (fixed size)
* Varying window
DYNamic Aggregation TEsting (DYNATE) algorithm"DYNATE dynamically and hierarchically aggregates smaller genomic regions into larger ones"
https://cran.r-project.org/package=DYNATE
1/
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STATGEN 2024 talk
Localizing Rare-Variant Association Regions via Multiple Testing Embedded in an Aggregation Tree
Jichun XieWhich variants
* Gene region
* Sliding window (fixed size)
* Varying window
DYNamic Aggregation TEsting (DYNATE) algorithm"DYNATE dynamically and hierarchically aggregates smaller genomic regions into larger ones"
https://cran.r-project.org/package=DYNATE
1/
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Delighted to share our latest preprint. We identified a rare, large-effect coding variant in the Puerto Rican population, contributing to cataract risk, and underscoring the importance of diverse genetic studies. #Genomics #RareVariants #23andme
https://www.medrxiv.org/content/10.1101/2023.07.25.23293173v1 -
Delighted to share our latest preprint. We identified a rare, large-effect coding variant in the Puerto Rican population, contributing to cataract risk, and underscoring the importance of diverse genetic studies. #Genomics #RareVariants #23andme
https://www.medrxiv.org/content/10.1101/2023.07.25.23293173v1 -
Delighted to share our latest preprint. We identified a rare, large-effect coding variant in the Puerto Rican population, contributing to cataract risk, and underscoring the importance of diverse genetic studies. #Genomics #RareVariants #23andme
https://www.medrxiv.org/content/10.1101/2023.07.25.23293173v1 -
Delighted to share our latest preprint. We identified a rare, large-effect coding variant in the Puerto Rican population, contributing to cataract risk, and underscoring the importance of diverse genetic studies. #Genomics #RareVariants #23andme
https://www.medrxiv.org/content/10.1101/2023.07.25.23293173v1 -
Delighted to share our latest preprint. We identified a rare, large-effect coding variant in the Puerto Rican population, contributing to cataract risk, and underscoring the importance of diverse genetic studies. #Genomics #RareVariants #23andme
https://www.medrxiv.org/content/10.1101/2023.07.25.23293173v1 -
Brain signatures of rare variants hint at cardiovascular risk
https://www.spectrumnews.org/news/brain-signatures-of-rare-variants-hint-at-cardiovascular-risk/
#copynumbervariation #brainimaging #rarevariants #15q11-13 #16p11.2 #autism #22q11 #News -
Brain signatures of rare variants hint at cardiovascular risk
https://www.spectrumnews.org/news/brain-signatures-of-rare-variants-hint-at-cardiovascular-risk/
#copynumbervariation #brainimaging #rarevariants #15q11-13 #16p11.2 #autism #22q11 #News -
Brain signatures of rare variants hint at cardiovascular risk
https://www.spectrumnews.org/news/brain-signatures-of-rare-variants-hint-at-cardiovascular-risk/
#copynumbervariation #brainimaging #rarevariants #15q11-13 #16p11.2 #autism #22q11 #News -
Brain signatures of rare variants hint at cardiovascular risk
https://www.spectrumnews.org/news/brain-signatures-of-rare-variants-hint-at-cardiovascular-risk/
#copynumbervariation #brainimaging #rarevariants #15q11-13 #16p11.2 #autism #22q11 #News -
After a long, long incubation, Dr. Dave Morales-Heil's paper is out in HGGA.
https://www.cell.com/hgg-advances/fulltext/S2666-2477(23)00019-2
The long and short of it is he found what we think is the first new gene associated with risk for hidradenitis suppurativa since the familial association with gamma-secretase genes was found > 10 years ago. And perhaps the first association with any form of HS, not just familial HS.
#Genetics #Genomics #Bioinformatics #Hidradenitis #RareVariants
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After a long, long incubation, Dr. Dave Morales-Heil's paper is out in HGGA.
https://www.cell.com/hgg-advances/fulltext/S2666-2477(23)00019-2
The long and short of it is he found what we think is the first new gene associated with risk for hidradenitis suppurativa since the familial association with gamma-secretase genes was found > 10 years ago. And perhaps the first association with any form of HS, not just familial HS.
#Genetics #Genomics #Bioinformatics #Hidradenitis #RareVariants
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After a long, long incubation, Dr. Dave Morales-Heil's paper is out in HGGA.
https://www.cell.com/hgg-advances/fulltext/S2666-2477(23)00019-2
The long and short of it is he found what we think is the first new gene associated with risk for hidradenitis suppurativa since the familial association with gamma-secretase genes was found > 10 years ago. And perhaps the first association with any form of HS, not just familial HS.
#Genetics #Genomics #Bioinformatics #Hidradenitis #RareVariants
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After a long, long incubation, Dr. Dave Morales-Heil's paper is out in HGGA.
https://www.cell.com/hgg-advances/fulltext/S2666-2477(23)00019-2
The long and short of it is he found what we think is the first new gene associated with risk for hidradenitis suppurativa since the familial association with gamma-secretase genes was found > 10 years ago. And perhaps the first association with any form of HS, not just familial HS.
#Genetics #Genomics #Bioinformatics #Hidradenitis #RareVariants
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X-chromosome variants help explain autism’s sex bias
https://www.spectrumnews.org/news/x-chromosome-variants-help-explain-autisms-sex-bias/
#SimonsSimplexCollection #femaleprotectiveeffect #whole-exomesequencing #denovomutations #simplexfamilies #rarevariants #autism #exome #SPARK #News #ADHD #sex -
X-chromosome variants help explain autism’s sex bias
https://www.spectrumnews.org/news/x-chromosome-variants-help-explain-autisms-sex-bias/
#SimonsSimplexCollection #femaleprotectiveeffect #whole-exomesequencing #denovomutations #simplexfamilies #rarevariants #autism #exome #SPARK #News #ADHD #sex -
Genome scan spots common variant differences between autism and ADHD
https://www.spectrumnews.org/news/genome-scan-spots-common-variant-differences-between-autism-and-adhd/
#commonvariants #rarevariants #epigenetics #depression #diagnosis #autism #News #ADHD #SNPs -
Genome scan spots common variant differences between autism and ADHD
https://www.spectrumnews.org/news/genome-scan-spots-common-variant-differences-between-autism-and-adhd/
#commonvariants #rarevariants #epigenetics #depression #diagnosis #autism #News #ADHD #SNPs -
‘Dosage sensitivity map’ predicts active ingredients in copy number variants
https://www.spectrumnews.org/news/toolbox/dosage-sensitivity-map-predicts-active-ingredients-in-copy-number-variants/
#copynumbervariation #denovomutations #bioinformatics #rarevariants #sequencing #Toolbox #autism #exome -
‘Dosage sensitivity map’ predicts active ingredients in copy number variants
https://www.spectrumnews.org/news/toolbox/dosage-sensitivity-map-predicts-active-ingredients-in-copy-number-variants/
#copynumbervariation #denovomutations #bioinformatics #rarevariants #sequencing #Toolbox #autism #exome -
Lumping versus splitting with autism-linked variants: A conversation with Vanessa Vogel-Farley and Yssa DeWoody
https://www.spectrumnews.org/opinion/q-and-a/lumping-versus-splitting-with-autism-linked-variants-a-conversation-with-vanessa-vogel-farley-and-yssa-dewoody/
#copynumbervariation #bioinformatics #rarevariants #community #15q11-13 #autism #QA -
Lumping versus splitting with autism-linked variants: A conversation with Vanessa Vogel-Farley and Yssa DeWoody
https://www.spectrumnews.org/opinion/q-and-a/lumping-versus-splitting-with-autism-linked-variants-a-conversation-with-vanessa-vogel-farley-and-yssa-dewoody/
#copynumbervariation #bioinformatics #rarevariants #community #15q11-13 #autism #QA -
Scans of sundry variant types uncover autism-linked genes
https://www.spectrumnews.org/news/scans-of-sundry-variant-types-uncover-autism-linked-genes/
#SimonsSimplexCollection #whole-genomesequencing #whole-exomesequencing #copynumbervariation #denovomutations #geneexpression #rarevariants #sequencing #autism #exome #News -
Scans of sundry variant types uncover autism-linked genes
https://www.spectrumnews.org/news/scans-of-sundry-variant-types-uncover-autism-linked-genes/
#SimonsSimplexCollection #whole-genomesequencing #whole-exomesequencing #copynumbervariation #denovomutations #geneexpression #rarevariants #sequencing #autism #exome #News -
Autism-linked mutation alters neuronal network activity
https://www.spectrumnews.org/news/autism-linked-mutation-alters-neuronal-network-activity/
#excitatorysignaling #synapticplasticity #learningandmemory #geneexpression #neuralnetworks #schizophrenia #connectivity #rarevariants #epigenetics #technology #epilepsy #autism #News -
Autism-linked mutation alters neuronal network activity
https://www.spectrumnews.org/news/autism-linked-mutation-alters-neuronal-network-activity/
#excitatorysignaling #synapticplasticity #learningandmemory #geneexpression #neuralnetworks #schizophrenia #connectivity #rarevariants #epigenetics #technology #epilepsy #autism #News -
Spectrum of variants contribute differently to autism traits
https://www.spectrumnews.org/news/spectrum-of-variants-contribute-differently-to-autism-traits/
#SimonsSimplexCollection #developmentaldelay #denovomutations #commonvariants #rarevariants #sequencing #autism #News #sex -
Spectrum of variants contribute differently to autism traits
https://www.spectrumnews.org/news/spectrum-of-variants-contribute-differently-to-autism-traits/
#SimonsSimplexCollection #developmentaldelay #denovomutations #commonvariants #rarevariants #sequencing #autism #News #sex -
Autism and the complete human genome: Q&A with Evan Eichler
https://www.spectrumnews.org/opinion/autism-and-the-complete-human-genome-qa-with-evan-eichler/
#whole-genomesequencing #copynumbervariation #denovomutations #geneexpression #genetictesting #genenetworks #rarevariants #epigenetics #15q11-13 #Opinion #16p11.2 #GWAS #QA -
Top autism candidate gene tied to newly identified syndrome
https://www.spectrumnews.org/news/top-autism-candidate-gene-tied-to-newly-identified-syndrome/
#intellectualdisability #developmentaldelay #genetictesting #rarevariants #mousemodels #seizures #hearing #autism #News -
Top autism candidate gene tied to newly identified syndrome
https://www.spectrumnews.org/news/top-autism-candidate-gene-tied-to-newly-identified-syndrome/
#intellectualdisability #developmentaldelay #genetictesting #rarevariants #mousemodels #seizures #hearing #autism #News -
Real-world data on Rett syndrome: Q&A with Jana von Hehn
https://www.spectrumnews.org/opinion/real-world-data-on-rett-syndrome-qa-with-jana-von-hehn/
#clinicaltrials #rarevariants #Rettsyndrome #treatments #Opinion #autism #MECP2 #QA -
Cluster of traits tied to rare mutations in autism-linked gene
https://www.spectrumnews.org/news/cluster-of-traits-tied-to-rare-mutations-in-autism-linked-gene/
#intellectualdisability #developmentaldelay #denovomutations #geneexpression #rarevariants #diagnosis #epilepsy #obesity #autism #News -
Mutation in new autism candidate gene disrupts social brain area
https://www.spectrumnews.org/news/mutation-in-new-autism-candidate-gene-disrupts-social-brain-area/
#inhibitorysignaling #neuralcircuits #rarevariants #autism #News -
Rare mutations prevalent among autistic people
https://www.spectrumnews.org/news/rare-mutations-prevalent-among-autistic-people/
#copynumbervariation #commonvariants #rarevariants #autism #News -
Autism-linked genetic variants increase, decrease intelligence
https://www.spectrumnews.org/news/autism-linked-genetic-variants-increase-decrease-intelligence/
#SimonsSimplexCollection #whole-genomesequencing #copynumbervariation #simplexfamilies #commonvariants #rarevariants #autism #News -
Precocious neurons may stunt brain growth in rare form of autism
https://www.spectrumnews.org/news/precocious-neurons-may-stunt-brain-growth-in-rare-form-of-autism/
#intellectualdisability #geneexpression #socialdeficits #hyperactivity #brainimaging #microcephaly #rarevariants #mousemodels #autism #News #ADHD -
Beyond the Bench: A conversation with Holly Stessman
https://www.spectrumnews.org/opinion/q-and-a/beyond-the-bench-a-conversation-with-holly-stessman/
#rarevariants #brainsize #organoids #genetics #autism #PTEN #QA -
Ultra-rare variants point to new autism candidate genes
https://www.spectrumnews.org/news/ultra-rare-variants-point-to-new-autism-candidate-genes/
#whole-genomesequencing #multiplexfamilies #simplexfamilies #bioinformatics #rarevariants #spokenlayer #sequencing #autism #News -
Evolutionary approach reveals impact of missense variants in autism
https://www.spectrumnews.org/news/evolutionary-approach-reveals-impact-of-missense-variants-in-autism/
#SimonsSimplexCollection #denovomutations #rarevariants #SFARIGene #autism #News #IQ