Posters

MedGenome specializes in processing challenging samples including FFPE and low-quality input material. Our analysis includes comprehensive report with rich visualizations identifying all types of relevant DNA and RNA variants.

Identifying and prioritizing the disease causing variants from thousands of variants that are called during a whole genome and exome sequencing analysis is a time consuming and manual task. Pathogenicity based ranking of variants greatly improves the speed of report generation, in turn increasing the diagnostic yield.

Single-cell transcriptomics has revolutionized genomics and is now an integral part of therapeutics and diagnostics research. Single cell RNA sequencing (scRNA-seq) enables the analysis of gene expression at single cell resolution via droplet-based cell capture methods that rely on microfluidic instruments such as those developed by 10x genomics.

Single cell genomic approaches can provide valuable insights into the complexity and heterogeneity of the cell types in the context of a tissue or tumor. However, challenges with the preparation of single cell suspensions, good cell viability and efficiently capturing diverse cell types in a mix via appropriate cell capture methods can override the utility of the approaches.

T cell immunity provides significant therapeutic benefit to cancer patients treated with checkpoint inhibitors, however a very small fraction of patients typically respond to checkpoint inhibitors, and a smaller fraction of them have any long-term benefit. This can be attributed to the lack of prognostic and predictive biomarkers.

While Genome wide association studies can shed light on the significance of variants in susceptibility to a disease or allow to stratify patients for specific therapeutic modalities, often variants that are rare and could be of significance are not identified in these studies.

Medical big data analytics has applications in clinical decision, predictive/ prognostic modelling of disease progression, disease surveillance, public health and research.

Somatic mutations have been found to be a rich source of potential cancer vaccines (which have shown promise in treating late stage cancers) with minimal T cell tolerance. MedGenome has built a proprietary cancer vaccine prediction platform, OncoPeptVAC using a combination of features that include TCR binding, human leukocyte antigen (HLA) binding, gene expression and proteasomal processing.

Papia Chakraborty³, Snigdha Majumder¹, Rakshit Shah², Jisha Elias^1,2, Vasumathi Kode³, Yogesh Mistry², Coral Karunakaran¹, Priyanka Shah¹, Malini Manoharan¹, Bharti Mittal¹, Sakthivel Murugan SM¹, Lakshmi Mahadevan¹, Ravi Gupta¹, Amitabha Chaudhuri^{1,3 **} and Arati Khanna-Gupta^1**

The MedGenome team has identified a germline mutation in an MMR pathway (the DNA mismatch repair pathway) gene – MLH1. Mutations in the MMR pathway genes have been known to be associated with Lynch syndrome wherein patients have a 70-80% lifetime risk of developing colorectal cancer (CRC).