EXOME SEQUENCING OF THOUSANDS OF SUBJECTS WITH AUTISM SPECTRUM DISORDER LED TO THE IDENTIFICATION OF A LARGE NUMBER OF CANDIDATE GENES. MUTATIONS IN THESE CANDIDATE GENES (SINGLE NUCLEOTIDE POLYMORPHISMS AND COPY NUMBER VARIANTS) ARE OFTEN RARE (MINOR ALLELE FREQUENCIES OF <1%).
EXOME SEQUENCING OF THOUSANDS OF SUBJECTS WITH AUTISM SPECTRUM DISORDER LED TO THE IDENTIFICATION OF A LARGE NUMBER OF CANDIDATE GENES. MUTATIONS IN THESE CANDIDATE GENES (SINGLE NUCLEOTIDE POLYMORPHISMS AND COPY NUMBER VARIANTS) ARE OFTEN RARE (MINOR ALLELE FREQUENCIES OF <1%).
THERE IS AN EFFORT TO IDENTIFY MANY SUBJECTS WITH MUTATIONS IN THE SAME GENE (COLORED CIRCLES AND SQUARES). WHY IS IT HELPFUL TO HAVE ACCESS TO SEVERAL UNRELATED SUBJECTS WITH DIFFERENT ALLELES OF THE SAME GENE? A) TO EXPLORE IF SUBJECTS WITH THE SAME MUTATION HAVE A MORE SIMILAR CLINICAL MANIFESTATION COMPARED TO ASD SUBJECTS WITH MUTATIONS IN DIFFERENT GENES. B) TO IDENTIFY EPIGENETIC MODIFICATIONS OF THIS GENE IN THE BLOOD OF ASD SUBJECTS. C) TO IDENTIFY ASD FAMILIES OF THE SAME ETHNIC BACKGROUND. D) TO TEST IF THESE MUTATIONS LEAD TO CHANGES IN GENE EXPRESSION. E) TO EXCLUDE THE ROLE OF COMMON VARIANTS IN THESE GENES IN ASD.
March 13, 2018Orders In ProgressExome sequencing
Exome sequencing of thousands of subjects with Autism Spectrum Disorder led to the identification of a large number of candidate genes. Mutations in these candidate genes (single nucleotide polymorphisms and copy number variants) are often rare (Minor allele frequencies of <1%). There is an effort to identify many subjects with mutations in the same gene (colored circles and squares). Why is it helpful to have access to several unrelated subjects with different alleles of the same gene? a) To explore if subjects with the same mutation have a more similar clinical manifestation compared to ASD subjects with mutations in different genes. b) To identify epigenetic modifications of this gene in the blood of ASD subjects. c) To identify ASD families of the same ethnic background. d) To test if these mutations lead to changes in gene expression. e) To exclude the role of common variants in these genes in ASD.
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