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Genome-wide approaches to characterize novel genetic elements causing cancer

Heatmap of mutations in adenocarcinoma and squamous carcinoma subtypes of cervical cancer and SGOL plot for copy amplification genes of cervical cancer

The area of my research is to characterize the genomic landscape of somatic alterations in cervical cancer from the Indian population. We have used next generation sequencing approach by performing exome sequencing to identify somatic mutations, transcriptome sequencing to identify gene-expression changes and gene fusions events in tumor samples. In addition, we have recently performed whole genome sequencing to identify copy number alterations and gene translocation events. After finding relevant alterations, further validation was performed in additional set of samples by Mass array genotyping and Sanger sequencing. From our analysis, we identified several clinically relevant targets. Our study provides complete genomic picture of somatic alterations that can serve as useful therapeutic options for the treatment of cervical cancer. This is a comprehensive genomic study from Indian population to be reported for the first time.

Figure: Heatmap of mutations in adenocarcinoma and squamous carcinoma subtypes of cervical cancer and SGOL plot for copy amplification genes of cervical cancer

Usha Patel

Ph.D-SRF

Trupti Togar

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