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Questions and Answers
Which of the following is an outcome of the reciprocal genomic disorder involving chromosome 16p11.2 copy-number variants (CNVs)?
Which of the following is an outcome of the reciprocal genomic disorder involving chromosome 16p11.2 copy-number variants (CNVs)?
- Hypertension, osteoporosis, and cancer
- Diabetes, heart disease, and obesity
- Intellectual disability, autism spectrum disorder (ASD), and schizophrenia (correct)
- Hearing loss, vision impairment, and motor neuron disease
Which of the following statements is supported by the transcriptome profiling performed in mouse models with CNVs of the syntenic 7qF3 region?
Which of the following statements is supported by the transcriptome profiling performed in mouse models with CNVs of the syntenic 7qF3 region?
- Differentially expressed genes were similar across all tissues and cell types
- Differentially expressed genes were largely tissue-, cell-type-, and dosage-specific (correct)
- No significant gene expression changes were observed in the mouse models
- The effects of CNVs were consistent across all six tissues studied
Where were the broadest effects observed in the mouse models with CNVs of the syntenic 7qF3 region?
Where were the broadest effects observed in the mouse models with CNVs of the syntenic 7qF3 region?
- Striatum
- Cerebellum (correct)
- Liver
- Brown fat
Which pathways showed the greatest enrichments in the mouse cerebellum and human induced neurons?
Which pathways showed the greatest enrichments in the mouse cerebellum and human induced neurons?
What processes were identified as shared by pathway and co-expression analyses?
What processes were identified as shared by pathway and co-expression analyses?
What gene sets showed enrichment in association with the reciprocal 16p11.2 CNVs?
What gene sets showed enrichment in association with the reciprocal 16p11.2 CNVs?
What is the main focus of the passage?
What is the main focus of the passage?
Which process is specifically implicated as a target of disruption in 16p11.2 carriers?
Which process is specifically implicated as a target of disruption in 16p11.2 carriers?
What is the significance of the reciprocal alterations to the proportions of excitatory and inhibitory GABAergic neurons in organoids?
What is the significance of the reciprocal alterations to the proportions of excitatory and inhibitory GABAergic neurons in organoids?
What is a key method used for modeling recurrent RGDs in hiPSCs and derived neuronal lineages?
What is a key method used for modeling recurrent RGDs in hiPSCs and derived neuronal lineages?
What do investigations of animal models and tissues reveal about NDD pathogenesis?
What do investigations of animal models and tissues reveal about NDD pathogenesis?
What complicates the identification of regulatory changes most relevant to abnormal neurodevelopment in individuals harboring CNVs?
What complicates the identification of regulatory changes most relevant to abnormal neurodevelopment in individuals harboring CNVs?
What method was used to examine tissue-specific changes in global gene expression?
What method was used to examine tissue-specific changes in global gene expression?
What is the primary focus of using global transcriptome analysis of peripheral cells from individuals harboring CNVs?
What is the primary focus of using global transcriptome analysis of peripheral cells from individuals harboring CNVs?
What did the authors seek to integrate in order to disentangle molecular and transcriptional signatures associated with 16p11.2 RGD?
What did the authors seek to integrate in order to disentangle molecular and transcriptional signatures associated with 16p11.2 RGD?
What are the three brain regions analyzed in the study?
What are the three brain regions analyzed in the study?
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