Empowering the individuals to access their personal genome data


CALL: 2019

DOMAIN: BM - Life Sciences, Biology and Medicine

FIRST NAME: Dheeraj reddy

LAST NAME: bobbili


INDUSTRY / PPP PARTNER: Luxembourg centre for systems biomedicine


KEYWORDS: genome, data access, SNPs, alignment, mislabeling, contamination




Submitted Abstract

Due to the advent of new sequencing machines there is a rapid decline in the cost of genome sequencing (NGS). It is now going mainstream and many genomes are being generated on a daily basis. However, the majority of the generated NGS data are being used within a narrow scope of research/clinical use thus not reaping the entire benefits of NGS. A genome once sequenced can be used throughout the life thus making it a life-long asset. To enable a genome to become a life-long resource, one needs to obtain access to his/her personal NGS. With the current approaches and processes it is very difficult to achieve this objective in a systematic way. For NGS data access to become a reality few technical challenges have to be addressed beforehand. Major challenges include the sample mislabelling, sample contamination, reducing the time to perform the sample verification and to preserve the privacy of an individual. The current proposal focuses on tackling these challenges by using state-of-the-art methods and improving upon them. The methods range from a biological identify verification based on a genomic fingerprint to avoid sample mislabeling, developing an alignment-free genomic fingerprinting to significantly reduce the time required to perform the identity verification and calculating the extent of sample contamination. These methods ensure that the right data goes to the right individual, aid the sequencing institutions in complying with the upcoming data access requests and finally, individuals will be empowered to take control of their data such that they can approach a third party of their choice of further analysis.

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