Effective Screening of Informative Single Nucleotide Polymorphisms using the Novel Method of Restriction Fragment Mass Polymorphism

Sh, Hwang; Hb, Oh; Se, Choi; Sp, Hong; W, Yoo

doi:10.1177/147323000703500611

Cited by 5 publications

(1 citation statement)

References 20 publications

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“…In this study, we use a restriction fragment mass polymorphism (RFMP) method for genotyping. The RFMP method is based on the matrix assisted laser desorption-ionization-time-of-flight (MALDI-TOF) mass spectrometry that has already been shown to be an efficient method to identify SNP sequences (Hong et al, 2008;Hwang et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

Evaluation of the classification method using ancestry SNP markers for ethnic group

Lee¹,

Hong

Lee

et al. 2019

CSAM

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Various probabilistic methods have been proposed for using interpopulation allele frequency differences to infer the ethnic group of a DNA specimen. The selection of the statistical method is critical because the accuracy of the statistical classification results vary. For the ancestry classification, we proposed a new ancestry evaluation method that estimate the combined ethnicity index as well as compared its performance with various classical classification methods using two real data sets. We selected 13 SNPs that are useful for the inference of ethnic origin. These single nucleotide polymorphisms (SNPs) were analyzed by restriction fragment mass polymorphism assay and followed by classification among ethnic groups. We genotyped 400 individuals from four ethnic groups (100 African-American, 100 Caucasian, 100 Korean, and 100 Mexican-American) for 13 SNPs and allele frequencies that differed among the four ethnic groups. Additionally, we applied our new method to HapMap SNP genotypes for 1,011 samples from 4 populations (African, European, East Asian, and Central-South Asian). Our proposed method yielded the highest accuracy among statistical classification methods. Our ethnic group classification system based on the analysis of ancestry informative SNP markers can provide a useful statistical tool to identify ethnic groups.

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Section: Introductionmentioning

confidence: 99%

Evaluation of the classification method using ancestry SNP markers for ethnic group

Lee¹,

Hong

Lee

et al. 2019

CSAM

View full text Add to dashboard Cite

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A mass spectrometry-based multiplex SNP genotyping by utilizing allele-specific ligation and strand displacement amplification

Park

Jang

Jung

et al. 2017

Biosensors and Bioelectronics

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Multiplex detection of KRAS mutations by a matrix-assisted laser desorption/ionization-time of flight mass spectrometry assay

Choi¹,

Min²,

Seok³

et al. 2014

Clinical Biochemistry

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Effective Screening of Informative Single Nucleotide Polymorphisms using the Novel Method of Restriction Fragment Mass Polymorphism

Abstract: Most of the 112 unvalidated cnSNPs were not informative. In conclusion, the RFMP method using pooled DNA is useful in selecting informative SNPs, as also is validation status in the dbSNP.

Cited by 5 publications

References 20 publications

Evaluation of the classification method using ancestry SNP markers for ethnic group

Evaluation of the classification method using ancestry SNP markers for ethnic group

A mass spectrometry-based multiplex SNP genotyping by utilizing allele-specific ligation and strand displacement amplification

Multiplex detection of KRAS mutations by a matrix-assisted laser desorption/ionization-time of flight mass spectrometry assay

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