Neurodevelopmental disorders encompass a wide range of conditions with a genetic component from ADHD: Genetic in Molecular Medicine Course Work, KCL, UK

Dec 11, 2023

University

Subject Genetic in Molecular Medicine

Neurodevelopmental disorders encompass a wide range of conditions with a genetic component from ADHD to aspects of autism. Following large-scale genome sequencing projects, 125 genes have been identified that are associated with this category of disorder. Common processes affected by these genes can be determined by GO-term analysis. But to make the analysis more stringent, filters can be applied.

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First, housekeeping genes, which by definition are expressed in all cell types, are removed from the list and then genes that are common to the NDD and ExAC lists can be selected. The ExAC list is a list of genes whose sequence is highly conserved over more than 60 000 human genome sequences suggesting that they have a highly significant function.

  • Generate a Venn diagram to identify the number of NDD genes that are common to the ExAC list but which are not found in the housekeeping list of genes. This constitutes the refined NDD analysis list.
  • Using a GO-term Molecular Function enrichment analysis of the refined NDD analysis list, present a Table to show the 4 top-level GO-terms with highest the fold-enrichment score and also list the P-value for each.
  • Give a brief description of the activity of one of the genes that are common to the two top-level Molecular Function GO terms with the highest fold-enrichment score.
  • Put the genes of the NDD analysis list into STRING and select settings for Experiments and Databases only and medium confidence (0.400). Hide disconnected nodes and protein structures and highlight the hub nodes that are associated with GO-042393 histone binding.

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