Revolutionizing Genomics via Third Generation Sequencing Technologies: Closing gap in Human Genome

'Technical tour de force'. An absolutely intriguing set of results recently deposited in bioRxiv claims the complete sequencing of the human genome. Even though, the human genome project was completed 20 years ago many regions of the DNA had gaps owing to the technical limitations to sequence those regions. The recent result claims to have sequenced the previous 8% gap in the human genome. This gap corresponds to several fold repeat regions forming the centromeres (the structural region crucial for cell division and holds the chromosomes together). The new venture spearheaded by Adam M. Phillippy of NIH and Karen H. Miga of UCSC took advantage of the advancements in the long read sequencing platforms like PacBio and Oxford Nanopore to close the gap in the human genome blueprint. The study used a hydatidiform mole ( a growth in a woman’s uterus caused when sperm fertilized an egg that did not have a nucleus), this meant it carried only 23 chromosomes, like sperm or egg and not 46 chromosomes. The advantage is that it reduces the computational requirement to a certain degree for handling the assemblies of 46 chromosomes. The study is yet to be peer reviewed and once confirmed, it opens newer applications in the personalized medicines, know your genome front etc., which are till now sort of a distant dream.

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