Genomics Flashcards

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1
Q

What is a genome?

A

The set of hereditary information encoded in the DNA of an organism, including both the protein-coding and non-protein-coding sequences.

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2
Q

What is genomics?

A

The study of genomes

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3
Q

What was the coverage of the human genome when it was first sequenced?

A

96% coverage, 0.01% error rate.

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4
Q

How many base pairs make up the human genome?

A

3.1 billion

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5
Q

What percentage of the human genome codes for proteins?

A

2%

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6
Q

What percentage of the human genome is in some form of repetitive sequence?

A

> 50%

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7
Q

What percentage of the human genome is the same in all people?

A

99.9%

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8
Q

Where does individual genome variation occur?

A

SNPs and copy number variations.

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9
Q

Are genes evenly distributed throughout the genome (e.g. between chromosomes)?

A

No

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10
Q

What is the biggest gene in the human genome?

A

Dystrophin (1.6% of chromosome X), 2.4 million bps long.

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11
Q

Which gene has the greatest number of introns?

A

234.

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12
Q

What are the first generation sequencing techniques?

A

Sanger sequencing, capillary electrophoresis sequencing.

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13
Q

How much did the Sanger sequencing method cost initially?

A

$1 per base.

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14
Q

How much does the capillary electrophoresis method cost?

A

< $0.01 per base

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15
Q

What is the clone-by-clone strategy?

A

Cutting out some of the chromosome, inserting it into a plasmid and allowing it to replicated. Cutting some again and replicating it again.

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16
Q

What are the disadvantages of the clone-by-clone method?

A

Slow, expensive, difficult to use for repetitive regions.

17
Q

What are some next generation sequencing methods?

A

Pyrosequencing, Illumina.

18
Q

What are some characteristics of the third generation sequencing methods?

A

Read long strands, need small amount of DNA, high error rate.