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Volume 02
Stem Cells 2019 & Pediatrics Congress 2019
November 06-07, 2019
Journal of Clinical Genetics and Genomics
November 06-07, 2019 | Tokyo, Japan
STEM CELLS AND REGENERATIVE MEDICINE
PEDIATRICS AND CHILD CARE
International Conference on
2
nd
World Congress on
&
J Clin Gen Genomics, Volume 02
Identification and pattern analysis of SNPs involved in colorectal cancer
Jyoti Bhojwani
DAVV/Indore University, India
C
olorectal cancer (CRC) is the second leading cause of cancer related deaths globally posing a lifetime risk of 80-100%
in every individual. Genetics and relevant mechanisms underlying some key signaling pathways like Wnt, TGF, p53,
K-ras etc. play a detrimental role in governing the predisposition for CRC. A high percentage of colorectal tumors (adenomas
and carcinomas) show activating mutations in beta-catenin or axin, whereas, loss of certain tumor suppressor genes (TSGs),
like APC cause the initiation of random polyps in the colon. All of these molecules incidentally are critical components of
an evolutionarily conserved Wnt signaling pathway, which is instrumental at various time points in the development of this
disease. Differences in SNP profiles amongst sample groups in the genomic landscape can be recognized through a smart and
efficient use of machine learning techniques. The statistics and pattern analyses of these SNP profiles interestingly provides
us with a concrete and logical platform upon which, relative contributions of each unique SNP, ranging “from cause to
effect” can be significantly assessed. The biological relevance of these SNP variations with respect to cancer prediction and
predisposition, however, remains to be resolved, pending a better understanding of the impact of rational control design in
SNP studies. Our results emerging from the analyses of significant SNP’s reported here, demonstrates the utility of relevant
bioinformatics tools and machine learning techniques in discriminating diseased populations based on realistic SNP data. In
this study, we have primarily targeted critical members of Wnt signaling pathway, which play important developmental roles
during different stages of colorectal cancer, depicting a classical “multigene-multistep nature” of cancer. We have identified
and related common genetic variants for the “early-acting” and “late-acting” members of this pathway, that are most prevalent
in patients with CRC disease. Complex relationships and correlations hidden in large data sets have been dug and analyzed
here, by deploying various data-mining techniques.
Biography
Jyoti Bhojwani is presently a Faculty of Genetics/Bioinformatics/ principal investigator of the M.Tech research programs (Bio-
Informatics) at University of Indore, India. She obtained her BSc (Bachelor’s degree) in Biological Sciences/Chemistry/Physics, MSc
(Master’s degree) in Life-Sciences and Doctoral degree (PhD) at School of Life-Sciences, University of Indore. She pursued her post-
doctoral ventures at Max-Planck Institute for Biophysical Chemistry (FRG), University of California-Irvine and University of Pittsburgh
(USA). Currently, her projects mainly focus on translational-research and extrapolation of basic developmental mechanisms from
model-systems like fruitfly (Drosophila) to human. Apart from this, her thrust areas of research interest include; cancer Biology, stem-
cell biology and homeotic-gene regulation. She is keen on studying in detail the genetic factors, which presumably aid in understanding
of mechanism by which “cancer stem cells” function in transforming a tissue from normal to cancerous states. Her research has a
motive to further facilitate the perception of stem cell potential/mechanistic in areas of regenerative medicine, translational research
and anti-cancer therapy. Being involved in clinical informatics, her students are also training a cancer model and a stem cell model,
deploying systems biology approach and other gene networking bioinformatics tools. This novel area of research will hopefully lead to
further understanding the tipping of balance from a stem cell/normal cell to a transformed cancer cell. Owing to her immense interest in
science journalism and writing potential, she is now on the editorial board of several international journals.
jbhojwani2005@gmail.com