Co-barcoded sequence reads from long DNA fragments: a cost-effective solution for "perfect genome" sequencing.

Abstract:

:Next generation sequencing (NGS) technologies, primarily based on massively parallel sequencing, have touched and radically changed almost all aspects of research worldwide. These technologies have allowed for the rapid analysis, to date, of the genomes of more than 2,000 different species. In humans, NGS has arguably had the largest impact. Over 100,000 genomes of individual humans (based on various estimates) have been sequenced allowing for deep insights into what makes individuals and families unique and what causes disease in each of us. Despite all of this progress, the current state of the art in sequence technology is far from generating a "perfect genome" sequence and much remains to be understood in the biology of human and other organisms' genomes. In the article that follows, we outline why the "perfect genome" in humans is important, what is lacking from current human whole genome sequences, and a potential strategy for achieving the "perfect genome" in a cost effective manner.

journal_name

Front Genet

journal_title

Frontiers in genetics

authors

Peters BA,Liu J,Drmanac R

doi

10.3389/fgene.2014.00466

subject

Has Abstract

pub_date

2015-01-14 00:00:00

pages

466

issn

1664-8021

journal_volume

5

pub_type

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