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4 - Long-Read Single-Molecule Optical Maps

from Part I - Super-Resolution Microscopy and Molecular Imaging Techniques to Probe Biology

Published online by Cambridge University Press:  05 May 2022

By
Assaf Grunwald ,
Yael Michaeli  and
Yuval Ebenstein
Edited by
Krishnarao Appasani  and
Raghu Kiran Appasani
Krishnarao Appasani
Affiliation:
GeneExpression Systems, Inc.
Raghu Kiran Appasani
Affiliation:
Psychiatrist, Neuroscientist, & Mental Health Advocate
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Summary

More than 150 years after the discovery of DNA (Dahm, 2005) and 50 years after the determination of a DNA duplex structure (Choudhuri, 2003), our understanding of genomics is still lacking. Despite a massive effort in genetic studies, there are still missing pieces in the puzzle: many traits have no corresponding genetic features, the reasons for variations among different individuals within a species are still a mystery, and the lack of single-molecule resolution hinders many types of analysis. These gaps are exemplified by inherent limitations in the currently leading technique for DNA studies, next generation sequencing (NGS). The initial “input” for NGS consists of genomes extracted from a large number of cells, and the final “output” is a single sequence. Thus, the produced data represents an average sequence of the majority of the sequenced cells. This results in oversight of several significant biological aspects, since variations within the population and rare cellular populations are not detected.

Type
Chapter
Information
Single-Molecule Science
From Super-Resolution Microscopy to DNA Mapping and Diagnostics
 , pp. 49 - 64
Publisher: Cambridge University Press
Print publication year: 2022

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