Replication of linkage results using MALDI-TOF detection of single nucleotide polymorphisms (SNPS)

Rabekah Gundry, David Hayden, Paul Boyce, Amy Voltz, Elise Luong, Elizabeth Pugh, Michael Kelley, Rebecca Fan, Joan E. Bailey-Wilson, Dane Witmer, Kimberly Doheny

Research output: Contribution to conferencePaperpeer-review

Abstract

The utility of MALDI-TOF MS detection of single nucleotide polymorphisms (SNP) was discussed. The study was carried out by genotyped and analyzed 40 SNPs on chromosomes 22 using the Homogeneous Mass EXTEND (hME) assay in one large 4 generation family consisting of 26 individuals. It was observed that, for the chromosome 22 SNP assays analyzed, the assays were originally genotyped up to four times for a single assay. Three mismatched were also found among 1,451 comparisons that equal to 0.21% and the overall missing data after considering all attempts was 3.1%.

Original languageEnglish (US)
Pages399-401
Number of pages3
StatePublished - 2002
EventProceedings - 50th ASMS Conference on Mass Spectrometry and Allied Topics - Orlando, FL, United States
Duration: Jun 2 2002Jun 6 2002

Conference

ConferenceProceedings - 50th ASMS Conference on Mass Spectrometry and Allied Topics
CountryUnited States
CityOrlando, FL
Period6/2/026/6/02

ASJC Scopus subject areas

  • Spectroscopy

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