RC Bioinformatics Flashcards

1
Q

What is the main advantage of PacBio?

A

It produces long reads

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2
Q

What does ChIP-seq allow us to identify?

A

The binding sites of transcription factors

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3
Q

What can be seen when Illumina reads from a sample are mapped to the reference when a deletion is present?

A

The pairs spanning the deletion map further apart than expected.

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4
Q

What is Illumina bridge amplification used for?

A

Cluster generation

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5
Q

Why will some RNA-seq reads be split when mapped to the reference genome?

A

They overlap an intron which has been spliced out of the mature transcription, but which is present in the genome sequence the reads are mapped to.

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6
Q

What type of alignment does BLAST perform?

A

Local alignment

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7
Q

How should the alignment of two sequences be described?

A

% identity

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8
Q

When might we use the word similarity to describe sequence alignment?

A

Similarity may be used to describe protein sequence alignment

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9
Q

Where does most mammalian cytosine methylation occur?

A

CpG sites

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10
Q

What can cause a problem for de novo assembly of genome sequences?

A

Repetitive sequences in the genome

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11
Q

What does a bubble in a de Bruijn graph indicate?

A

The presence of a repeat

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12
Q

Why are adapters added to the genomic fragments in an Illumina library?

A

To allow PCR amplification of the library

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13
Q

How does TBLASTN allow us to BLAST a protein sequence against a nucleotide database?

A

It translates the database in all six reading frames

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14
Q

Why would we use index sequences in Illumina libraries?

A

To identify different samples on a flow cell

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15
Q

What can happen when performing multiple tests for differentially expressed genes in parallel?

A

We are more likely to obtain false positives, so we need to apply the False Discovery Rate correction.

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16
Q

What information is displayed in a pile-up plot?

A

The number of reads overlapping each base in the reference genome

17
Q

What is caused by bisulphite treatment?

A

Unmethylated cytosines to be converted to uracil

18
Q

What sort of SNP is most likely to cause a genetic condition?

A

Non-synonymous SNPs change the amino acid sequence of the encoded protein, so are more likely to cause a genetic condition.

19
Q

What was the main reason for the decrease in sequencing costs between 2007-2012?

A

The development of “next-generation” sequencing technologies

20
Q

What is the name of the plots used to display genome-wide association data?

A

Manhattan plot

21
Q

What is the benefit of RNA-seq over microarrays for studying gene expression?

A

RNA-seq does not require a reference genome, since the reads can be assembled de novo.