TY - JOUR
T1 - Molecular methods for genotyping complex copy number polymorphisms
AU - Cantsilieris, Stuart
AU - Baird, Paul N
AU - White, Stefan
PY - 2013
Y1 - 2013
N2 - Genome structural variation shows remarkable complexity with respect to copy number, sequence content and distribution. While the discovery of copy number polymorphisms (CNP) has increased exponentially in recent years, the transition from discovery to genotyping has proved challenging, particularly for CNPs embedded in complex regions of the genome. CNPs that are collectively common in the population and possess a dynamic range of copy numbers have proved the most difficult to genotype in association studies. This is in some part due to technical limitations of genotyping assays and the sequence properties of the genomic region being analyzed. Here we describe in detail the basis of a number of molecular techniques used to genotype complex CNPs, compare and contrast these approaches for determination of multi-allelic copy number, and discuss the potential application of these techniques in genetic studies.
AB - Genome structural variation shows remarkable complexity with respect to copy number, sequence content and distribution. While the discovery of copy number polymorphisms (CNP) has increased exponentially in recent years, the transition from discovery to genotyping has proved challenging, particularly for CNPs embedded in complex regions of the genome. CNPs that are collectively common in the population and possess a dynamic range of copy numbers have proved the most difficult to genotype in association studies. This is in some part due to technical limitations of genotyping assays and the sequence properties of the genomic region being analyzed. Here we describe in detail the basis of a number of molecular techniques used to genotype complex CNPs, compare and contrast these approaches for determination of multi-allelic copy number, and discuss the potential application of these techniques in genetic studies.
UR - http://www.ncbi.nlm.nih.gov/pubmed/23123317
U2 - 10.1016/j.ygeno.2012.10.004
DO - 10.1016/j.ygeno.2012.10.004
M3 - Article
VL - 101
SP - 86
EP - 93
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 2
ER -