Deanne Taylor

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Currently, the method most used for gene detection calls on Affy-metrix oligonucleotide arrays is provided as part of the MAS5.0 software. The MAS method uses Wilcoxon statistics for determining presence-absence (MAS-P/A) calls. It is known that MAS-P/A is limited by its need to use both perfect match (PM) and mismatch (MM) probe data in order to call a(More)
Aneuploidy represents the most prevalent form of genetic instability found in human embryos and is the leading genetic cause of miscarriage and developmental delay in newborns. Telomere DNA deficiency is associated with genomic instability in somatic cells and may play a role in development of aneuploidy commonly found in female germ cells and human(More)
The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS; MIM #192430; 188400) is the most common microdeletion syndrome. The phenotypic presentation of 22q11DS is highly variable; approximately 60–75 % of 22q11DS patients have been reported to have a congenital heart defect (CHD), mostly of the conotruncal type, and/or aortic(More)
An analysis of gene expression variability can provide an insightful window into how regulatory control is distributed across the transcriptome. In a single cell analysis, the inter-cellular variability of gene expression measures the consistency of transcript copy numbers observed between cells in the same population. Application of these ideas to the(More)
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