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 (D)</p> Signup and view all the answers

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

<p>~99.0% (A)</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 (D)</p> Signup and view all the answers

What is the type of mutation associated with DiGeorge Syndrome?

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

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

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

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

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

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