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BMS2062 - Introduction to bioinformatics S2 2025

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Which of the following best describes how Xist RNA contributes to X chromosome inactivation?
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In the decapping and deadenylation mediated mRNA decay pathway, what would be the consequence of a mutation that resulted in the CCR4-NOT complex NOT being able to remove the poly(A) tail?
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Progeria is a disease that leads to rapid ageing and is caused by a

mutation leading to a dysfunctional Lamin A protein. Based on your knowledge of

lamina-associated domains (LADs), what would be a potential phenotype of

progeria patients?

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UTX is a

lysine demethylase that removes methylation marks specifically from lysine 27

on Histone H3. If a cell has a mutation that decreases the function of UTX,

what would be the effect on gene expression in general?

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Why

might gene editing be preferred over gene therapy in some personalised medicine

strategies?

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What

does the use of biomarkers to guide treatment decisions illustrate about the

philosophy of personalised medicine?

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What makes the clinical standards framework a

robust tool for assessing the pathogenicity of mutations?

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In

the context of personalised medicine, what problem does detecting genomic

variants aim to address?

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Why is

under-expressing a gene of interest useful to help understand the function of

the gene product of interest?

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How does

genomics assist in making gene editing possible, where a disease-causing

mutation is implicated in a genetic disease?

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