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Western University

Single nucleotide polymorphism

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Full-Text Articles in Genetics and Genomics

Cross-Species Utility Of The Mouse Diversity Genotyping Array In Assaying Single Nucleotide Polymorphisms, Rachel Kelly Aug 2019

Cross-Species Utility Of The Mouse Diversity Genotyping Array In Assaying Single Nucleotide Polymorphisms, Rachel Kelly

Electronic Thesis and Dissertation Repository

In the study of genetic diversity in non-model species there is a notable lack of the low-cost, high resolution tools that are readily available for model organisms. Genotyping microarray technology for model organisms is well-developed, affordable, and potentially adaptable for cross-species hybridization. The Mouse Diversity Genotyping Array (MDGA), a single nucleotide polymorphism (SNP) genotyping tool designed for M. musculus, was tested as a tool to survey genomic diversity of wild species for inter-order, inter-family, inter-genus, and intra-genus comparisons. Application of the MDGA cross-species provides genetic distance information that reflects known taxonomic relationships reported previously between non-model species, but there …


Characterization Of Genomic Copy Number Variation In Mus Musculus Associated With The Germline Of Inbred And Wild Mouse Populations, Normal Development, And Cancer, Maja Milojevic Apr 2019

Characterization Of Genomic Copy Number Variation In Mus Musculus Associated With The Germline Of Inbred And Wild Mouse Populations, Normal Development, And Cancer, Maja Milojevic

Electronic Thesis and Dissertation Repository

Mus musculus is a human commensal species and an important model of human development and disease with a need for approaches to determine the contribution of copy number variants (CNVs) to genetic variation in laboratory and wild mice, and arising with normal mouse development and disease. Here, the Mouse Diversity Genotyping array (MDGA)-approach to CNV detection is developed to characterize CNV differences between laboratory and wild mice, between multiple normal tissues of the same mouse, and between primary mammary gland tumours and metastatic lung tissue.

A CNV detection pipeline was used in conjunction with evaluated probe sets, targeting 925,378 loci …


A Bioinformatics Analysis Of Contributors To False Discovery For A Mouse Genotyping Array, Nisha Patel Aug 2018

A Bioinformatics Analysis Of Contributors To False Discovery For A Mouse Genotyping Array, Nisha Patel

Electronic Thesis and Dissertation Repository

Microarray experiments employing massively-parallel hybridization are valuable for the study of genetic variation, however, errors during hybridization and limitations of single-species design must be considered for use within and across species. The Mouse Diversity Genotyping Array (MDGA) is a low cost, high-resolution microarray with probes that bind to target DNA for variant detection. Errors associated with probe design and incomplete protein removal from target DNA lead to false discovery and thus necessitate examination of probe suitability and target DNA availability. Bioinformatics methods were used to carry out confirmation of probe annotations, assessment of DNA accessibility for hybridization to probes, and …


Array-Based Genomic Diversity Measures Portray Mus Musculus Phylogenetic And Genealogical Relationships, And Detect Genetic Variation Among C57bl/6j Mice And Between Tissues Of The Same Mouse, Susan T. Eitutis Jul 2013

Array-Based Genomic Diversity Measures Portray Mus Musculus Phylogenetic And Genealogical Relationships, And Detect Genetic Variation Among C57bl/6j Mice And Between Tissues Of The Same Mouse, Susan T. Eitutis

Electronic Thesis and Dissertation Repository

Mouse models lack affordable genomic technologies slowing the identification of candidate variants contributing to complex phenotypes. The Mouse Diversity Genotyping Array (MDGA) is a low cost, high-resolution platform permitting genomic diversity assessment. Using a validated list of >500,000 single nucleotide polymorphisms (SNPs), we applied the first comprehensive analysis of SNP differences to detect genetic distance across 362 Mus musculus samples. Genetic distance measured between distantly and closely related mice correlates with known phylogeny and genealogy. Variation detected between C57BL/6J mice is consistent with previous reports of variants within this strain. Putative genetic variation detected between and within tissues indicates somatic …