Bioinformatics Flashcards

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1
Q

What do SNP arrays measure?

A

Known, common SNPs - Genetics

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2
Q

What type of mutation (silent, nonsense, missense) is sickle cell anaemia

A

Non-conservative missense

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3
Q

What is a manhatton plot used for

A

Genome wide association studies (GWAS)

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4
Q

What does Sanger sequencing measure

A

can identify new or novel mutations
however, small scale

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5
Q

What do whole genome and whole exome sequencing measure

A

can identify brand new mutations like sanger sequencing, but on a genome-wide scale
Whole exome sequencing more cost-effective but limited to protein coding region

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6
Q

What is RNA sequencing used for?

A

To measure the influence of disease or the environment on a given sample
e.g. Cigarette smoke exposure

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