#denovomutations — Public Fediverse posts

Whole-genome trove ties new genes, variants to autism

https://www.spectrumnews.org/news/whole-genome-trove-ties-new-genes-variants-to-autism/

#multiplexfamilies #denovomutations #simplexfamilies #geneexpression #genetictesting #genetherapy #babysibs #autism #News

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

‘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

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

Mutations disrupting chromatin interactions contribute to autism

https://www.spectrumnews.org/news/mutations-disrupting-chromatin-interactions-contribute-to-autism/

#SimonsSimplexCollection #whole-genomesequencing #denovomutations #geneexpression #sequencing #autism #News #GWAS

The final frontier: Autism geneticists take on the noncoding genome

https://www.spectrumnews.org/news/the-final-frontier-autism-geneticists-take-on-the-noncoding-genome/

#SimonsSimplexCollection #whole-genomesequencing #denovomutations #machinelearning #geneexpression #sequencing #autism #News

Common inherited variants tied to autism show sex bias in families

https://www.spectrumnews.org/news/common-inherited-variants-tied-to-autism-show-sex-bias-in-families/

#SimonsSimplexCollection #intellectualdisability #denovomutations #commonvariants #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

Novel gene linked to brain size in autistic people

https://www.spectrumnews.org/news/novel-gene-linked-to-brain-size-in-autistic-people/

#SimonsSimplexCollection #denovomutations #macrocephaly #brainsize #zebrafish #autism #News

Alternate RNA versions of genes may shape autism

https://www.spectrumnews.org/news/alternate-rna-versions-of-genes-may-shape-autism/

#postmortembrains #denovomutations #bioinformatics #geneexpression #sequencing #splicing #autism #cortex #News

Trends in autism research 2021

https://www.spectrumnews.org/features/special-reports/trends-in-autism-research-2021/

#whole-genomesequencing #denovomutations #diagnostictests #SpecialReports #geneexpression #Xchromosome #aggression #sequencing #attention #community #diagnosis #mosaicism #autism #sex

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

Analysis ups estimate of spontaneous mutations’ role in autism

https://www.spectrumnews.org/news/analysis-ups-estimate-of-spontaneous-mutations-role-in-autism/

#SimonsSimplexCollection #whole-genomesequencing #multiplexfamilies #denovomutations #simplexfamilies #autism #News

Mutations in the noncoding genome contribute to autism

https://www.spectrumnews.org/news/mutations-in-the-noncoding-genome-contribute-to-autism/

#SimonsSimplexCollection #whole-genomesequencing #denovomutations #geneexpression #News #GWAS

Patchwork mutations present a new frontier for autism research

https://www.spectrumnews.org/news/patchwork-mutations-present-a-new-frontier-for-autism-research/

#SimonsSimplexCollection #copynumbervariation #denovomutations #genetictesting #mosaicism #autism #News #SNPs

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