#rarevariants — Public Fediverse posts

STATGEN 2024 talk
Localizing Rare-Variant Association Regions via Multiple Testing Embedded in an Aggregation Tree
Jichun Xie

Which 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

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#STATGEN2024 #Genetics #StatisticalGenetics #RareVariants

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

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

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

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

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

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