Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research.

The beginning of this millennium has seen dramatic advances in genomic research. Milestones such as the complete sequencing of the human genome and of many other species were achieved and complemented by the systematic discovery of variation at the single nucleotide (SNP) and whole segment (copy num...

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Main Authors: Jiannis Ragoussis, Gareth P Elvidge, Kulvinder Kaur, Stefano Colella
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2006-07-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC1523240?pdf=render
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author Jiannis Ragoussis
Gareth P Elvidge
Kulvinder Kaur
Stefano Colella
author_facet Jiannis Ragoussis
Gareth P Elvidge
Kulvinder Kaur
Stefano Colella
author_sort Jiannis Ragoussis
collection DOAJ
description The beginning of this millennium has seen dramatic advances in genomic research. Milestones such as the complete sequencing of the human genome and of many other species were achieved and complemented by the systematic discovery of variation at the single nucleotide (SNP) and whole segment (copy number polymorphism) level. Currently most genomics research efforts are concentrated on the production of whole genome functional annotations, as well as on mapping the epigenome by identifying the methylation status of CpGs, mainly in CpG islands, in different tissues. These recent advances have a major impact on the way genetic research is conducted and have accelerated the discovery of genetic factors contributing to disease. Technology was the critical driving force behind genomics projects: both the combination of Sanger sequencing with high-throughput capillary electrophoresis and the rapid advances in microarray technologies were keys to success. MALDI-TOF MS-based genome analysis represents a relative newcomer in this field. Can it establish itself as a long-term contributor to genetics research, or is it only suitable for niche areas and for laboratories with a passion for mass spectrometry? In this review, we will highlight the potential of MALDI-TOF MS-based tools for resequencing and for epigenetics research applications, as well as for classical complex genetic studies, allele quantification, and quantitative gene expression analysis. We will also identify the current limitations of this approach and attempt to place it in the context of other genome analysis technologies.
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spelling doaj.art-549620e470834110a21a81a70b3c25732022-12-21T20:37:19ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042006-07-0127e10010.1371/journal.pgen.0020100Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research.Jiannis RagoussisGareth P ElvidgeKulvinder KaurStefano ColellaThe beginning of this millennium has seen dramatic advances in genomic research. Milestones such as the complete sequencing of the human genome and of many other species were achieved and complemented by the systematic discovery of variation at the single nucleotide (SNP) and whole segment (copy number polymorphism) level. Currently most genomics research efforts are concentrated on the production of whole genome functional annotations, as well as on mapping the epigenome by identifying the methylation status of CpGs, mainly in CpG islands, in different tissues. These recent advances have a major impact on the way genetic research is conducted and have accelerated the discovery of genetic factors contributing to disease. Technology was the critical driving force behind genomics projects: both the combination of Sanger sequencing with high-throughput capillary electrophoresis and the rapid advances in microarray technologies were keys to success. MALDI-TOF MS-based genome analysis represents a relative newcomer in this field. Can it establish itself as a long-term contributor to genetics research, or is it only suitable for niche areas and for laboratories with a passion for mass spectrometry? In this review, we will highlight the potential of MALDI-TOF MS-based tools for resequencing and for epigenetics research applications, as well as for classical complex genetic studies, allele quantification, and quantitative gene expression analysis. We will also identify the current limitations of this approach and attempt to place it in the context of other genome analysis technologies.http://europepmc.org/articles/PMC1523240?pdf=render
spellingShingle Jiannis Ragoussis
Gareth P Elvidge
Kulvinder Kaur
Stefano Colella
Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research.
PLoS Genetics
title Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research.
title_full Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research.
title_fullStr Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research.
title_full_unstemmed Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research.
title_short Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research.
title_sort matrix assisted laser desorption ionisation time of flight mass spectrometry in genomics research
url http://europepmc.org/articles/PMC1523240?pdf=render
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