Fiana Ní Ghrálaigh Profile picture
Sep 24, 2020 5 tweets 5 min read Read on X
We wrote a review on the potential of genome sequencing technologies in autism
@lornahoulihan @lgallagh_louise…

@AutismTCD @MaynoothBiology @scienceirel @MaynoothUni @tcddublin
#AutismGenomics #BelieveInScience

Let me tell you more (1/5)
WHY study the genetics of autism?

Studying genetics helps us to understand the biology of autism and brings us towards improved diagnosis and medical decision-making (2/5)

#ThinkGenetics #AutismGenomics Image
HOW can we identify genetic variants in ASD?

Sequencing of the whole genome and the whole exome is made possible by Next-Generation Sequencing technologies. These techniques allow us to look at many types of genetic variation across the genome. (3/5)

#NGS #Genomics Image
WHAT impact are these genetic variants having?

Genetic variants associated with autism can have an impact on the genome by disrupting the function of a gene, through the number of copies of a gene and/or by affecting how a gene is regulated. (4/5)

#CNV #Regulation
WHO can help us learn more about the genetics of autism?

Families! By studying families, we can look at how genetic variants are transmitted. Large cohorts have been collected for this reason and have led to important genetic findings. (5/5)

#Family #AutismGenomics Image

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