Understanding Genetic Abnormalities: Causes, Types, and Implications
#CausesOfGeneticDisorder, #ChromosomalDisorders, #DeNovoMutations, #GeneDisorders, #GeneEditing, #GeneticAbnormalities, #GeneticCounseling, #GeneticDisorder, #GeneticDisorderType, #GeneticFactors, #GeneticResearch, #KlinefelterSyndrome, #MitochondrialDisorders, #Mutation #Genetics Genetic abnormalities, also known as genetic disorders or genetic diseases, are conditions caused by changes in an…
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
Common and rare autism-linked variants share functional effects
https://www.spectrumnews.org/news/common-and-rare-autism-linked-variants-share-functional-effects/
#copynumbervariation #denovomutations #commonvariants #16p11.2 #autism #News
Tying PPFIA3 to autism: A quick take at SfN with Tuan Chao and Maimuna Paul
https://www.spectrumnews.org/news/tying-ppfia3-to-autism-a-quick-take-at-sfn-with-tuan-chao-and-maimuna-paul/
#denovomutations #animalmodels #Drosophila #epilepsy #autism #videos #News
Zebrafish point to new gene involved in brain overgrowth, autism
https://www.spectrumnews.org/news/zebrafish-point-to-new-gene-involved-in-brain-overgrowth-autism/
#denovomutations #macrocephaly #brainsize #zebrafish #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
Organoids test gene therapies for Pitt-Hopkins syndrome
https://www.spectrumnews.org/news/organoids-test-gene-therapies-for-pitt-hopkins-syndrome/
#denovomutations #genetherapy #treatments #organoids #autism #CRISPR #News
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
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
Fruit flies help reveal effects of autism-linked mutations
https://www.spectrumnews.org/news/fruit-flies-help-reveal-effects-of-autism-linked-mutations/
#denovomutations #Drosophila #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
Glial cells star in autism-linked gene expression analysis
https://www.spectrumnews.org/news/glial-cells-star-in-autism-linked-gene-expression-analysis/
#single-cellsequencing #denovomutations #geneexpression #astrocytes #autism #News
