Clinical Interpretation of Novel Copy Number Variations

Copy Number Variations: CNVs) are a significant source of human genetic diversity and are believed to be responsible for a wide variety of phenotypic variation. Recent advances in microarray-based genomic hybridization techniques have facilitated CNV analysis as a viable diagnostic technique in the clinic, and several public databases of well-characterized CNVs are being compiled, but a standard for interpreting uncharacterized CNVs has yet to emerge. This thesis examines the clinical interpretation of uncharacterized CNVs as a multiple instance binary classification problem. We analyze the current state of clinical techniques, then present and test several novel statistical approaches to the problem.

Name thesis:degree_name

Master of Arts (MA)

Level thesis:degree_level

Thesis

Discipline thesis:degree_discipline

Computer Science and Engineering

Year dc:date.available

2011

Author dc:creator

• Carey, Clifton

Contributors dc:contributor

• S. Swamidass

• Computer Science

Language dc:language

English (en)

DOI

https://doi.org/10.7936/K7CR5RDM

OAI identifier oai:identifier

oai:openscholarship.wustl.edu:etd-1445