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 language | English (US) |
|---|---|
| Pages | 399-401 |
| Number of pages | 3 |
| State | Published - Dec 1 2002 |
| Event | Proceedings - 50th ASMS Conference on Mass Spectrometry and Allied Topics - Orlando, FL, United States Duration: Jun 2 2002 → Jun 6 2002 |
Conference
| Conference | Proceedings - 50th ASMS Conference on Mass Spectrometry and Allied Topics |
|---|---|
| Country | United States |
| City | Orlando, FL |
| Period | 6/2/02 → 6/6/02 |
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ASJC Scopus subject areas
- Spectroscopy
Cite this
Replication of linkage results using MALDI-TOF detection of single nucleotide polymorphisms (SNPS). / Gundry, Rabekah; Hayden, David; Boyce, Paul; Voltz, Amy; Luong, Elise; Pugh, Elizabeth; Kelley, Michael; Fan, Rebecca; Bailey-Wilson, Joan E.; Witmer, Dane; Doheny, Kimberly.
2002. 399-401 Paper presented at Proceedings - 50th ASMS Conference on Mass Spectrometry and Allied Topics, Orlando, FL, United States.Research output: Contribution to conference › Paper
}
TY - CONF
T1 - Replication of linkage results using MALDI-TOF detection of single nucleotide polymorphisms (SNPS)
AU - Gundry, Rabekah
AU - Hayden, David
AU - Boyce, Paul
AU - Voltz, Amy
AU - Luong, Elise
AU - Pugh, Elizabeth
AU - Kelley, Michael
AU - Fan, Rebecca
AU - Bailey-Wilson, Joan E.
AU - Witmer, Dane
AU - Doheny, Kimberly
PY - 2002/12/1
Y1 - 2002/12/1
N2 - 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%.
AB - 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%.
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M3 - Paper
AN - SCOPUS:2442645537
SP - 399
EP - 401
ER -