W15 L2 - Genomic, Transcriptomics and Precision Medicine

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Flashcards based on a lecture about DNA sequencing, the human genome project, precision medicine, and transcriptome analysis.

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30 Terms

1
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What is Sanger sequencing?

A method of DNA sequencing for which Sanger received the Nobel Prize.

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Approximately how many base pairs are in the human genome?

3,000,000,003 base pairs.

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What was the Human Genome Project?

A collaborative project that aimed to decipher the entire human genome.

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What was the estimated cost of the Human Genome Project?

Approximately 3 billion US dollars.

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Who was the key figure in fundraising for the Human Genome Project?

Professor James Watson

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What is one definition of a gene?

Something that codes for phenotype

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Approximately how many genes do humans have?

Roughly 25,000.

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What were the goals of the Human Genome Project?

To understand how genes are organized, discover new genes, and develop new treatments for diseases.

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What did the Human Genome Project facilitate?

An enormous leap in technology, including data storage, sequencing, and robotics.

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What is the goal of precision medicine?

To tailor medical treatments to an individual's genetic makeup.

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What does precision medicine involve?

Looking at the individual genetic makeup of people to use exactly the right treatment for them.

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What genes were Angelina Jolie tested for?

Mutations in breast cancer-associated genes (BRAC1 and BRAC2).

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Why is sequencing one gene like BRAC1 not always sufficient for cancer risk assessment?

It is often found alongside mutations in other genes.

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What is Oxford Nanopore?

An innovative DNA sequencing technology.

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What is the basic structure used by Oxford Nanopore technology?

A membrane with tiny holes (pores) through which DNA strands are passed.

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How does Oxford Nanopore technology determine the DNA sequence?

By measuring the change in ionic current as each base passes through the pore.

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What is one disadvantage of Oxford Nanopore sequencing?

It has a higher error rate compared to Sanger sequencing.

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What is the advantage of Oxford Nanopore over Sanger sequencing in terms of throughput?

It can generate many sequences at the same time.

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How quickly can Oxford Nanopore complete a human genome sequence?

Within one day.

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What is a transcriptome?

The entirety of messenger RNAs.

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What does reverse transcription involve?

Converting unstable messenger RNA into stable DNA (cDNA).

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What is direct RNA seq?

Direct RNA sequencing.

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What do you call the change to the messenger RNA after death?

The sanata transcriptome.

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If genes are activated or deactivated post-mortem, is there a pattern?

There is a program of sorts. We really don't understand why.

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What are biobots?

New life forms created from cells that can't reproduce.

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What did the professor compare biobots to?

The caterpillar.

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What is the speaker's vision for the future of precision medicine?

The use of artificial intelligence in precision medicine and drug development.

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What is a gene (in terms of heredity)?

The physical unit of heredity.

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To what has biobots been compared, in terms relatable to the listener?

They have been compared to zombie cells.

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In the future, what does the speaker hope to use AI for?

Use AI to make drug development more specific to a person.