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 1 and parts of Lecture 3:
– Covers CNVs and methods such as Comparative Genomic Hybridization (CGH) and array CGH (aCGH).

Describe the main steps using positional cloning and linkage analysis to identify the locus

associated with a simple Mendelian disorder

Lecture 3: Identify Variants Associated with Human Disease
– Details linkage analysis, recombination fraction, LOD scores, and positional cloning.