Whole-Genome Sequencing
  • 1. A type of whole genome sequencing called Sanger Sequencing was used to sequence the first human genome.
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  • 2. _____ coverage depth results in increased confidence in variant identification.
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  • 3. Whole genome sequencing methods include:
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  • 4. De novo assembly is performed by identifying overlapping regions in the DNA sequences, aligning, the sequences and putting them back together to form the genome. De novo assembly is the only way to sequence a new organism.
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  • 5. Exomes make up approximately _____% of the human genome.
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  • 6. Whole genome sequencing is preferred for use in the _____ setting, while targeted panels are preferred for use in the _____ setting.
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  • 7. Strengths of whole genome sequencing using next generation sequencing methods include:
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  • 8. For many abnormalities detected by whole genome sequencing, clinical utility is unknown.
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  • 9. Bioinformaticists are an important component to analyzing whole genome sequencing data. Their workflow includes:
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