How have exome and genome sequencing led to the discovery of genes implicated in autism?
How have exome and genome sequencing led to the discovery of genes implicated in autism?
Homework Answers
Exome sequencing or whole exome sequencing( WES) is defined as sequencing of the exons or protein coding sequence alone. Sequencing only the functional genes gives more clear idea of disease candidate genes. Autism is a neurodevelopmental disorder in which social interaction and communication deficits occurs. Genes responsible for the neurological deficit can be identified through the exome sequencing. Through exome sequencing of samples from patients having autism led to discovery of gene variants that are responsible for autism spectrum disorders. Following are the genes identified in whole exome sequencing of autism patient samples using Sanger sequencing : PTEN, AFF2, ADNP, IL1RAPL1, CHD8, SHANK3 and POGZ.
Eventhough there are patients without the above gene variants are available, above are the mostly commonly occuring disease variants .
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How have exome and genome sequencing led to the discovery of
genes implicated in autism?
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