Results for "Single Nucleotide Polymorphism"

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

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)

Single-nucleotide polymorphisms

Lab 8: Single Nucleotide Polymorphisms

Single Nucleotide Polymorphism and Data Analysis of Population Genetics

Chapter 22: Single Nucleotide Polymorphism Profiling