Project Details
Description
Project Summary/Abstract
Progress in technology has made individual genome sequencing a clinical reality, with partial genome
sequencing already in use in clinical care. In fact, it is expected that within a few years whole genome
sequencing will be a standard procedure that will allow discovering personal genomic variants of all types and
thus greatly facilitate individualized medicine. However, fast and reliable analysis of such data is challenging;
and improvements in analytics are needed before the clinical potential of whole genome sequencing can be
realized. Specifically, copy number variations account for a large proportion of human genetic diversity, are
frequently observed in cancer, and have been associated with multiple diseases, cancer susceptibility, cancer
progression and invasiveness, individual response to treatment, and patients' quality of life after treatment (i.e.,
emergence of side effects). Therefore, comprehensive identification and analysis of copy-number variants will
help us more fully elucidate the biology of their functional effects on human health (in particular, for cancer
emergence and progression) and will facilitate clinical diagnostics and treatment.
However, abilities to detect CNVs/CNAs from sequencing are not fully utilized due to immature
analytical approaches. This proposal suggests continuing development and enhancement of analytical
approaches for the detection of copy number variants and aberrations from sequencing data.
Historically, the development of concepts, techniques, and methods in the basic sciences has been
followed by their transition and use in applied areas. Specifically, advances in biology lead to applications in
medicine. The developments we propose anticipate many forthcoming applications of whole genome
sequencing in medicine, and set up a computational framework to power clinical care with tools for copy
number variants discovery and analysis.
3
Status | Finished |
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Effective start/end date | 5/1/18 → 4/30/23 |
Funding
- National Cancer Institute: $572,828.00
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