Big Data Flashcards

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1
Q

What is big data?

A

It is often hypothesis generating rather than hypothesis testing.

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2
Q

What types of big data are there?

A
  • ‘OMICS’- genomics, transcriptomics, epigenomics
  • Microscopy - fluorescent tagging in cells, automated image analysis. cell type, differentiation, contractility, migration, response to drugs
  • Human physiology health- activity tracking, health records, questionnaires, blood samples.
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3
Q

Why is big data used?

A

To generate knowledge about:
- development
- physiology
- drug safety
- epidemiology

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4
Q

What is cDNA?

A

Reverse transcriptase generates synthetic DNA from RNA

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5
Q

How is transcriptomics carried out?

A

mRNA is extracted from a sample and converted to cDNA.
It is then sequenced on illumination next gen sequencing.
Make statistical comparisons.
Identify genes exhibiting differential expression.

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6
Q

What is normoxia and hypoxia?

A

Normoxia = 21% O2
Hypoxia = 1% O2

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7
Q

What is fold change?

A

How much gene expression increases or decreases by treatment.

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8
Q

What is significance?

A

The statistical significance of the difference in gene expression.

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9
Q

What do the colours of a volcano plot dictate?

A

Red = downregulated genes
Green = upregulated genes

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10
Q

What do gene ontology and biological pathway algorithms interpret?

A

The consequence of gene expression changes.

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11
Q

How is single cell RNA sequencing performed?

A

Tissue is dissected and treated with enzymes.
Single cell suspension.
Transcriptome is sequenced.

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12
Q

How is single cell RNA sequencing data plotted?

A

Using a UMAP plot.
- Each dot is a cell
- Close dots = similar
- Similar cells are clusters of same colour

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13
Q

How are risk genes identified?

A

GWAS.
Identifies SNPs found more frequently in cases than controls.

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14
Q

How are GWAS results presented?

A

Manhattan plots, where high scoring SNPs are identified as risk alleles.

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15
Q

What is an SNP?

A

Single nucleotide variant.

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16
Q

How many SNPs do humans have?

A

3 x 10^7

17
Q

Why are SNP associations used?

A

SNP does not necessarily affect the closest gene.

18
Q

What can combining risk associated data with gene expression data do?

A
  • Identify the gene whose expression levels are linked to the SNP
  • Identify the cell types that the genetic variants have functional consequences
  • Reveal how variants might regulate gene expression
19
Q

What are examples of population scale projects?

A
  • 100,000 genome project- 16.1% of rare disease patients received diagnosis
  • UK biobank - study of 500,000, looked at demographic, physical activity, anatomical, physiological, biochemical, genomic.