Accurate detection of SNPs using base-specific cleavage and mass spectrometry

Accurate detection of single-nucleotide polymorphisms (SNPs) is crucial for the success of many downstream analyses such as clinical diagnosis, virus identification, genetic mapping and association studies. Among many others, one valuable approach for SNP detection is based on the base-specific clea...

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Main Authors: Sun, Ruimin, Gao, Xiang, Han, Nanyu, Wu, Qiong, Mu, Yuguang, Tang, Kai, Chen, Xin
Other Authors: School of Biological Sciences
Format: Conference Paper
Language:English
Published: 2013
Subjects:
Online Access:https://hdl.handle.net/10356/102864
http://hdl.handle.net/10220/16876
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author Sun, Ruimin
Gao, Xiang
Han, Nanyu
Wu, Qiong
Mu, Yuguang
Tang, Kai
Chen, Xin
author2 School of Biological Sciences
author_facet School of Biological Sciences
Sun, Ruimin
Gao, Xiang
Han, Nanyu
Wu, Qiong
Mu, Yuguang
Tang, Kai
Chen, Xin
author_sort Sun, Ruimin
collection NTU
description Accurate detection of single-nucleotide polymorphisms (SNPs) is crucial for the success of many downstream analyses such as clinical diagnosis, virus identification, genetic mapping and association studies. Among many others, one valuable approach for SNP detection is based on the base-specific cleavage of single-stranded nucleic acids followed by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) analysis. In this paper, we present a new SNP detection algorithm, which in particular permits an efficient and effective integration of the information in four complementary base-specific mass spectra. The new algorithm was implemented in a program called SnpMs. Comparative evaluation has been carried out on both simulated and real biological datasets, where experimental results clearly demonstrated the high ability of SnpMs as a tool to accurately detect SNPs.
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spelling ntu-10356/1028642020-03-07T12:31:20Z Accurate detection of SNPs using base-specific cleavage and mass spectrometry Sun, Ruimin Gao, Xiang Han, Nanyu Wu, Qiong Mu, Yuguang Tang, Kai Chen, Xin School of Biological Sciences School of Physical and Mathematical Sciences IEEE International Conference on Bioinformatics and Biomedicine (2012 : Philadelphia, US) DRNTU::Science::Biological sciences DRNTU::Science::Chemistry Accurate detection of single-nucleotide polymorphisms (SNPs) is crucial for the success of many downstream analyses such as clinical diagnosis, virus identification, genetic mapping and association studies. Among many others, one valuable approach for SNP detection is based on the base-specific cleavage of single-stranded nucleic acids followed by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) analysis. In this paper, we present a new SNP detection algorithm, which in particular permits an efficient and effective integration of the information in four complementary base-specific mass spectra. The new algorithm was implemented in a program called SnpMs. Comparative evaluation has been carried out on both simulated and real biological datasets, where experimental results clearly demonstrated the high ability of SnpMs as a tool to accurately detect SNPs. 2013-10-25T02:07:35Z 2019-12-06T21:01:17Z 2013-10-25T02:07:35Z 2019-12-06T21:01:17Z 2012 2012 Conference Paper Sun, R., Gao, X., Han, N., Wu, Q., Mu, Y., Tang, K., et al. (2012). Accurate detection of SNPs using base-specific cleavage and mass spectrometry. 2012 IEEE International Conference on Bioinformatics and Biomedicine (BIBM), pp.1-4. https://hdl.handle.net/10356/102864 http://hdl.handle.net/10220/16876 10.1109/BIBM.2012.6392727 167807 en
spellingShingle DRNTU::Science::Biological sciences
DRNTU::Science::Chemistry
Sun, Ruimin
Gao, Xiang
Han, Nanyu
Wu, Qiong
Mu, Yuguang
Tang, Kai
Chen, Xin
Accurate detection of SNPs using base-specific cleavage and mass spectrometry
title Accurate detection of SNPs using base-specific cleavage and mass spectrometry
title_full Accurate detection of SNPs using base-specific cleavage and mass spectrometry
title_fullStr Accurate detection of SNPs using base-specific cleavage and mass spectrometry
title_full_unstemmed Accurate detection of SNPs using base-specific cleavage and mass spectrometry
title_short Accurate detection of SNPs using base-specific cleavage and mass spectrometry
title_sort accurate detection of snps using base specific cleavage and mass spectrometry
topic DRNTU::Science::Biological sciences
DRNTU::Science::Chemistry
url https://hdl.handle.net/10356/102864
http://hdl.handle.net/10220/16876
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