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2. BIOL1027 - The Human Genome and Disease > SC - Genome Evaluation > Flashcards

SC - Genome Evaluation Flashcards

1
Q

What causes difference in eye colours?

A

The nearby HERC2 gene causes changes in the AMOUNT of OCA2 made

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2
Q

What are the 4 main categories of genetic variants?

A

SNPs - Single Nucleotide Polymorphisms
DIPs - Deletion-Insertion Polymorphisms
SSR - Simple Sequence Repeats
CNV - Copy Number Variants

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3
Q

What is known as the ‘reference’ human genome?

A

PAN-genome

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4
Q

What does the PAN-genome help with?

A
  • Representation
  • Identifying ‘resilient’ humans
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5
Q

What are 2 present examples of positive selection?

A
  • Lactose intolerance
  • Malaria resistance
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2. BIOL1027 - The Human Genome and Disease (20 decks)

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