Title: Personal genome analysis: a tread towards personalised medicine

Authors: Deepika Jaggi; Heena Dhiman; Sonam Arora; Vidhi Malik; Yasha Hasija

Addresses: Department of Biotechnology, Delhi Technological University, Bawana Road, Delhi – 110042, India ' Department of Biotechnology, Delhi Technological University, Bawana Road, Delhi – 110042, India ' Department of Biotechnology, Delhi Technological University, Bawana Road, Delhi – 110042, India ' Department of Biotechnology, Delhi Technological University, Bawana Road, Delhi – 110042, India ' Department of Biotechnology, Delhi Technological University, Bawana Road, Delhi – 110042, India

Abstract: Recent developments in whole-genome sequencing technology have introduced to us, completely determined genome sequences of many individuals, called 'personal genomes'. As personal genome sequencing is being commoditised, the necessity to discover sequence dissimilarities is increasing, to facilitate clinical diagnostic studies. For this we need to have the knowledge of regions containing duplications, rearrangements and large scale gain and loss of sequences. Apart from that storage and retrieval of such a varied dataset and the basic analysis of genomic sequence is very important, to interpret the complex personal genomes. Thus, acquaintance with computational techniques that aid in easy and fast analysis of whole genome sequences is quite essential. Hereby we are discussing some of the tools that are being successfully used for gene prediction, sequencing, gene annotation, genome comparisons along with some ELSIs associated with such studies. Such modernised tools and methods can deduce the molecular make-up of each individual for the conception of personalised medicine.

Keywords: whole genome sequencing; personal genomes; gene prediction; comparative genomics; personalised medicine; structural variations; tools; ELSI; personal genome analysis; personalisation; gene annotation; genome comparisons.

DOI: 10.1504/IJFIPM.2014.068180

International Journal of Functional Informatics and Personalised Medicine, 2014 Vol.4 No.3/4, pp.198 - 225

Available online: 19 Mar 2015 *

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