YOUR MENTOR HAS WHOLE GENOME SEQUENCE (WGS) DATA ON 2,000 CHILDREN WITH AUTISM SPECTRUM DISORDER (ASD). YOU PERFORM BIOINFORMATICS ANALYSES AND IDENTIFY CHANGES IN THE CAPUT GENE.

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YOUR MENTOR HAS WHOLE GENOME SEQUENCE (WGS) DATA ON 2,000 CHILDREN WITH AUTISM SPECTRUM DISORDER (ASD). YOU PERFORM BIOINFORMATICS ANALYSES AND IDENTIFY CHANGES IN THE CAPUT GENE.

ONE AFFECTED INDIVIDUAL HAS COPY NUMBER VARIATIONS (CNVS) THAT AMPLIFY THE ENTIRE CAPUT GENE. ANOTHER AFFECTED INDIVIDUAL HAS A SINGLE BASE PAIR SUBSTITUTION THAT INTRODUCES A PREMATURE STOP-CODON IN THE CAPUT CODING REGION. THE CAPUT GENE HAS AN IMPORTANT ROLE IN SYNAPTIC TRANSMISSION AND NEURONAL DEVELOPMENT. WHICH EXPERIMENT WOULD BE YOUR NEXT STEP? A) SEQUENCE THE UPSTREAM REGION OF THE CAPUT GENE IN THE SAME SET OF ASD SUBJECTS TO FIND REGULATORY MUTATIONS. B) PERFORM EPIGENETIC ANALYSIS OF THE CAPUT GENE IN THE BLOOD. C) GENERATE KNOCK-OUT AND KNOCK-IN ALLELES OF CAPUT IN THE MOUSE AND EVALUATE THEIR PHENOTYPE IN A SOCIABILITY TEST. D) PERFORM DEEP PHENOTYPING ON ALL ASD SUBJECTS TO SEARCH FOR COMMON CLINICAL PROFILES. E) SEARCH FOR INTERACTING GENES IN ALL SUBJECTS WHO CARRY MUTATIONS IN THE CAPUT GENE.
March 13, 2018Uncategorized
Your mentor has Whole Genome Sequence (WGS) data on 2,000 children with Autism Spectrum Disorder (ASD). You perform bioinformatics analyses and identify changes in the Caput gene. One affected individual has Copy Number Variations (CNVs) that amplify the entire Caput gene. Another affected individual has a single base pair substitution that introduces a premature stop-codon in the Caput coding region. The Caput gene has an important role in synaptic transmission and neuronal development. Which experiment would be your next step? a) Sequence the upstream region of the Caput gene in the same set of ASD subjects to find regulatory mutations. b) Perform epigenetic analysis of the Caput gene in the blood. c) Generate knock-out and knock-in alleles of Caput in the mouse and evaluate their phenotype in a sociability test. d) Perform deep phenotyping on all ASD subjects to search for common clinical profiles. e) Search for interacting genes in all subjects who carry mutations in the Caput gene.

Your mentor has Whole Genome Sequence (WGS) data on 2,000 children with Autism Spectrum Disorder (ASD). You perform bioinformatics analyses and identify changes in the Caput gene. One affected individual has Copy Number Variations (CNVs) that amplify the entire Caput gene. Another affected individual has a single base pair substitution that introduces a premature stop-codon in the Caput coding region. The Caput gene has an important role in synaptic transmission and neuronal development. Which experiment would be your next step? a) Sequence the upstream region of the Caput gene in the same set of ASD subjects to find regulatory mutations. b) Perform epigenetic analysis of the Caput gene in the blood. c) Generate knock-out and knock-in alleles of Caput in the mouse and evaluate their phenotype in a sociability test. d) Perform deep phenotyping on all ASD subjects to search for common clinical profiles. e) Search for interacting genes in all subjects who carry mutations in the Caput gene.

Your mentor has Whole Genome Sequence (WGS) data on 2,000 children with Autism Spectrum Disorder (ASD). You perform bioinformatics analyses and identify changes in the Caput gene. One affected individual has Copy Number Variations (CNVs) that amplify the entire Caput gene. Another affected individual has a single base pair substitution that introduces a premature stop-codon in the Caput coding region. The Caput gene has an important role in synaptic transmission and neuronal development. Which experiment would be your next step? a) Sequence the upstream region of the Caput gene in the same set of ASD subjects to find regulatory mutations. b) Perform epigenetic analysis of the Caput gene in the blood. c) Generate knock-out and knock-in alleles of Caput in the mouse and evaluate their phenotype in a sociability test. d) Perform deep phenotyping on all ASD subjects to search for common clinical profiles. e) Search for interacting genes in all subjects who carry mutations in the Caput gene.

Your mentor has Whole Genome Sequence (WGS) data on 2,000 children with Autism Spectrum Disorder (ASD). You perform bioinformatics analyses and identify changes in the Caput gene. One affected individual has Copy Number Variations (CNVs) that amplify the entire Caput gene. Another affected individual has a single base pair substitution that introduces a premature stop-codon in the Caput coding region. The Caput gene has an important role in synaptic transmission and neuronal development. Which experiment would be your next step? a) Sequence the upstream region of the Caput gene in the same set of ASD subjects to find regulatory mutations. b) Perform epigenetic analysis of the Caput gene in the blood. c) Generate knock-out and knock-in alleles of Caput in the mouse and evaluate their phenotype in a sociability test. d) Perform deep phenotyping on all ASD subjects to search for common clinical profiles. e) Search for interacting genes in all subjects who carry mutations in the Caput gene.

 

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