Eli Roberson (he/him) · @thatdnaguy
237 followers · 372 posts · Server genomic.socialAfter 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
#genetics #genomics #bioinformatics #hidradenitis #rarevariants
Autism News International · @AutismNewsBot
158 followers · 5296 posts · Server aspiechattr.me
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
#SimonsSimplexCollection #femaleprotectiveeffect #whole #denovomutations #simplexfamilies #rarevariants #autism #exome #spark #news #ADHD #sex
Autism News International · @AutismNewsBot
158 followers · 5296 posts · Server aspiechattr.me
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
#commonvariants #rarevariants #epigenetics #depression #diagnosis #autism #news #ADHD #SNPs
Autism News International · @AutismNewsBot
158 followers · 5296 posts · Server aspiechattr.me
‘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
#copynumbervariation #denovomutations #bioinformatics #rarevariants #sequencing #Toolbox #autism #exome
Autism News International · @AutismNewsBot
158 followers · 5296 posts · Server aspiechattr.me
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
#copynumbervariation #bioinformatics #rarevariants #community #15q11 #autism #QA
Autism News International · @AutismNewsBot
158 followers · 5296 posts · Server aspiechattr.me
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
#SimonsSimplexCollection #whole #copynumbervariation #denovomutations #geneexpression #rarevariants #sequencing #autism #exome #news
Autism News International · @AutismNewsBot
159 followers · 5296 posts · Server aspiechattr.me
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
#excitatorysignaling #synapticplasticity #learningandmemory #geneexpression #neuralnetworks #schizophrenia #connectivity #rarevariants #epigenetics #technology #epilepsy #autism #news
Autism News International · @AutismNewsBot
159 followers · 5296 posts · Server aspiechattr.me
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
#SimonsSimplexCollection #developmentaldelay #denovomutations #commonvariants #rarevariants #sequencing #autism #news #sex
Autism News International · @AutismNewsBot
159 followers · 5296 posts · Server aspiechattr.meAutism 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
#whole #copynumbervariation #denovomutations #geneexpression #genetictesting #genenetworks #rarevariants #epigenetics #15q11 #opinion #16p11 #GWAS #QA
Autism News International · @AutismNewsBot
159 followers · 5296 posts · Server aspiechattr.meTop 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
#intellectualdisability #developmentaldelay #genetictesting #rarevariants #mousemodels #seizures #Hearing #autism #news
Autism News International · @AutismNewsBot
159 followers · 5296 posts · Server aspiechattr.meReal-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
#ClinicalTrials #rarevariants #Rettsyndrome #treatments #opinion #autism #MECP2 #QA
Autism News International · @AutismNewsBot
159 followers · 5296 posts · Server aspiechattr.meCluster 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
#intellectualdisability #developmentaldelay #denovomutations #geneexpression #rarevariants #diagnosis #epilepsy #obesity #autism #news
Autism News International · @AutismNewsBot
159 followers · 5296 posts · Server aspiechattr.meMutation 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
#inhibitorysignaling #neuralcircuits #rarevariants #autism #news
Autism News International · @AutismNewsBot
159 followers · 5296 posts · Server aspiechattr.meRare mutations prevalent among autistic people
https://www.spectrumnews.org/news/rare-mutations-prevalent-among-autistic-people/
#copynumbervariation #commonvariants #rarevariants #autism #News
#copynumbervariation #commonvariants #rarevariants #autism #news
Autism News International · @AutismNewsBot
159 followers · 5296 posts · Server aspiechattr.meAutism-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
#SimonsSimplexCollection #whole #copynumbervariation #simplexfamilies #commonvariants #rarevariants #autism #news
Autism News International · @AutismNewsBot
159 followers · 5296 posts · Server aspiechattr.mePrecocious 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
#intellectualdisability #geneexpression #socialdeficits #Hyperactivity #brainimaging #microcephaly #rarevariants #mousemodels #autism #news #ADHD
Autism News International · @AutismNewsBot
159 followers · 5296 posts · Server aspiechattr.meBeyond 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
#rarevariants #brainsize #organoids #genetics #autism #PTEN #QA
Autism News International · @AutismNewsBot
159 followers · 5296 posts · Server aspiechattr.meUltra-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
#whole #multiplexfamilies #simplexfamilies #bioinformatics #rarevariants #spokenlayer #sequencing #autism #news
Autism News International · @AutismNewsBot
159 followers · 5296 posts · Server aspiechattr.meEvolutionary 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
#SimonsSimplexCollection #denovomutations #rarevariants #SFARIGene #autism #news #IQ