NGS Machines and DNA Sequencing Quiz

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Questions and Answers

What is the discrete probability distribution of the number of successes in a sequence of n independent experiments, each asking a yes–no question?

  • Poisson distribution
  • Normal distribution
  • Exponential distribution
  • Binomial distribution (correct)

What type of mutations alter the phenotype and kind of start the cancer?

  • Germline mutations
  • Driver mutations (correct)
  • Passenger mutations
  • Somatic mutations

What type of mutations have no impact on cancer and are not actionable?

  • Somatic mutations
  • Driver mutations
  • Passenger mutations (correct)
  • Germline mutations

What is the main source of errors in NGS machines resulting in noisy sequence reads?

<p>Repetitive sequences in the genome (C)</p> Signup and view all the answers

What process involves taking the information and converting it to insights?

<p>Tertiary analysis (C)</p> Signup and view all the answers

What are variations of a gene called?

<p>Alleles (D)</p> Signup and view all the answers

What is the term used to describe variations of a gene?

<p>Allele (B)</p> Signup and view all the answers

What type of distribution can be used to model Normal-Tumour Allelic Count Data?

<p>Binomial distribution (C)</p> Signup and view all the answers

What does tertiary analysis involve?

<p>Taking the information and converting it to insights (D)</p> Signup and view all the answers

What do driver mutations do in the context of cancer?

<p>Alter phenotype and kind of start the cancer (C)</p> Signup and view all the answers

Flashcards

Binomial Distribution

A probability distribution describing the number of 'successes' in a series of independent trials where each trial has only two possible outcomes and the probability of success is constant.

Driver Mutations

Mutations that directly contribute to the development of cancer by altering the function of genes involved in cell growth or regulation.

Passenger Mutations

Mutations that occur in the genome but do not contribute to the development of cancer. They are essentially 'passengers' on the cancer journey.

Repetitive Sequences

These sequences in the genome can lead to errors in sequencing due to the difficulty in accurately reading repeating patterns.

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Tertiary Analysis

The process of converting raw sequencing data into meaningful insights about biological samples.

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Allele

Variations of a gene, similar to different versions of the same software.

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Tertiary Analysis

The process of analyzing raw sequencing data to draw conclusions about biological samples.

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Driver Mutations

Mutations that can trigger or accelerate cancer development by disrupting essential cellular processes.

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Passenger Mutations

Mutations that occur in a DNA sequence but do not contribute to the development of cancer.

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Study Notes

Probability Distribution

  • The discrete probability distribution of the number of successes in a sequence of n independent experiments, each asking a yes–no question, is called the binomial distribution.

Cancer and Mutations

  • Driver mutations alter the phenotype and can start cancer.
  • Passenger mutations have no impact on cancer and are not actionable.

Next Generation Sequencing (NGS)

  • Errors in NGS machines, resulting in noisy sequence reads, are mainly due to sequencing errors.

Data Analysis

  • Tertiary analysis involves taking the information and converting it to insights.

Genetics

  • Variations of a gene are called alleles.
  • The term used to describe variations of a gene is allelic variation.

Statistical Modeling

  • The beta-binomial distribution can be used to model Normal-Tumour Allelic Count Data.

Cancer Biology

  • Driver mutations promote cancer development and progression.

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