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

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16 Questions

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

3,200,000,000 nucleotides

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

Francis Collins

What is the approximate number of genes in Rice?

~37,500 genes

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

149 billion bases

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

Craig Venter

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

2.25 million bases

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

~19,300 genes

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

Variable Number Tandem Repeats (VNTRs)

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

34kb

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

Francis Collins

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

~3.5 million

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

~99.0%

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

Benign

What is the type of mutation associated with DiGeorge Syndrome?

22q11.2 deletion

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

(resolution ~2kb)

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

'Clearly Actionable Result'

Explore the pathogenesis of major human diseases and learn about DNA variations and their frequencies in the genomic age. Gain insights into molecular genetics and mutation detection with Benjamin Darbro, M.D., Ph.D., Associate Professor at the University of Iowa Hospitals and Clinics.

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