Molecular Genetics & Mutation Detection in the Genomic Age Benjamin Darbro, M.D., Ph.D.
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Questions and Answers

What was the approximate size of the human genome sequenced by the Human Genome Project?

  • 2.25 million bases
  • 149 billion bases
  • 3,200,000,000 nucleotides (correct)
  • 20,000 protein coding genes

    • Who completed the first draft of the Human Genome in June 2000?

  • Celera Genomics
  • Francis Collins (correct)
  • International Human Genome Project
  • Craig Venter

    • What is the approximate number of genes in Rice?

  • ~20,000 protein coding genes
  • ~19,300 genes
  • ~37,500 genes (correct)
  • ~3,200,000,000 nucleotides

    • What is the size of the genome of P. japonica?

    <p>149 billion bases</p> Signup and view all the answers

    Who led one of the groups that completed the Human Genome Project?

    <p>Craig Venter</p> Signup and view all the answers

    What is the size of the genome of E. intestinalis?

    <p>2.25 million bases</p> Signup and view all the answers

    What is the approximate number of protein coding genes in dogs?

    <p>~19,300 genes</p> Signup and view all the answers

    Which DNA variation type is used in cancer and identity testing?

    <p>Variable Number Tandem Repeats (VNTRs)</p> Signup and view all the answers

    What is the median (mean) size of Copy-Number Variations (CNV)?

    <p>34kb</p> Signup and view all the answers

    Who stated 'We are all mutants' in April 2010?

    <p>Francis Collins</p> Signup and view all the answers

    What is the average number of SNVs per genome? (in 2010)

    <p>~3.5 million</p> Signup and view all the answers

    What is the approximate percentage of DNA sequence similarity between humans?

    <p>~99.0%</p> Signup and view all the answers

    What is the result of a genetic variant that is 'Probably Not Disease Causing' and seen often in population databases?

    <p>Benign</p> Signup and view all the answers

    What is the type of mutation associated with DiGeorge Syndrome?

    <p>22q11.2 deletion</p> Signup and view all the answers

    Which DNA variation type has a resolution of approximately 2kb for deletions and duplications?

    <p>(resolution ~2kb)</p> Signup and view all the answers

    'Not Benign' genetic variants not seen often in population databases are classified as:

    <p>'Clearly Actionable Result'</p> Signup and view all the answers

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