Global Burden of Genetic Disease

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Questions and Answers

What was the purpose of the collaborative Centers for Mendelian Genomics (CMGs) established by NIH?

  • To establish 261 institutions in 36 countries
  • To identify 956 genes associated with human health
  • To assess the genetic variants responsible for Mendelian phenotypes (correct)
  • To recognize a large number of Mendelian phenotypes

What can be inferred from the statement 'Many genes with important functions where associated protein product still unknown'?

  • The function of these genes is not important
  • The genes have no impact on human health
  • The protein product of these genes is yet to be discovered (correct)
  • The proteins associated with these genes are well-understood

What was the outcome of the assessment conducted in Jan 2015 with 18,863 samples from 8,838 families?

  • Recognition of 579 new Mendelian phenotypes
  • Discovery of genetic variants responsible for cystic fibrosis
  • Identification of 956 genes underlying a Mendelian phenotype (correct)
  • Establishment of 261 institutions in 36 countries

What was the main focus of the study by Chong et al. in 2015?

<p>Identification of genes with unknown protein products associated with inherited disorders (B)</p> Signup and view all the answers

What was a significant challenge before the completion of the human genome project, as mentioned in the text?

<p>Isolating genes responsible for Mendelian phenotypes (C)</p> Signup and view all the answers

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