sample question

1. A baby presents at a clinic with a severe neurodevelopmental disorder that you suspect may

be caused by a de novo (sporadic) genetic mutation. Describe how you could identify

candidate Single Nucleotide Polymorphisms (SNP) that may cause the disease, without

having access to samples from the child’s parents or from any other family member. Briefly

describe a different approach that you could use to identify Copy Number Variants (CNV)

Lecture 6: GWAS Continued; Genomics
– Focus on Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) for identifying de novo mutations, rare variants, and their filtering strategies.

3. For Genome Wide Association Studies (GWAS), variants present in the tested groups

(patients and controls) can be identified using SNP arrays (often called bead arrays, high

density arrays, microarrays or similar). Describe how these arrays can be used to

characterise up to 1 million SNPs (Single Nucleotide Polymorphisms) in a single individual in

a single experiment. Describe how the method works – that is, how the base present at each

potential polymorphic site can be identified.

Lecture 5 and 6:
– Cover Illumina Bead Arrays, SNP identification using high-density arrays, and how fluorescent signals identify base changes.