Evidence map›Paper›PMID 15687291›Full record

ArticleGenome research2005

A genotyping system capable of simultaneously analyzing >1000 single nucleotide polymorphisms in a haploid genome.

Hui-Yun Wang, Minjie Luo, Irina V Tereshchenko, Danielle M Frikker, Xiangfeng Cui, James Y Li, Guohong Hu, Yi Chu, Marco A Azaro, Yong Lin and 6 more

Abstract readValidation Study
In one paragraph

Article in Genome research, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

29 citing papers in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Hui-Yun WangDepartment of Molecular Genetics, Microbiology and Immunology/The Cancer Institute of New Jersey, Robert Wood Johnson Medical School, New Brunswick, New Jersey 08903, USA.
Minjie Luo
Irina V Tereshchenko
Danielle M Frikker
Xiangfeng Cui
James Y Li
Guohong Hu
Yi Chu
Marco A Azaro
Yong Lin
Li Shen
Qifeng Yang
Manousos E Kambouris
Richeng Gao
Weichung Shih
Honghua Li

Funding

A Genetic Approach to Genome-scale Analysis of CancersR33CA096309 · NCI · UNIV OF MED/DENT NJ-R W JOHNSON MED SCH · PI LI, HONGHUA · 2002 to 2004
$2.0M
ESTABLISHING A ROBUST MULTIPLEX SNP-SCORING SYSTEMR01HG002094 · NHGRI · UNIV OF MED/DENT NJ-R W JOHNSON MED SCH · PI LI, HONGHUA · 2000 to 2003
$1.7M
MOLECULAR PATHWAYS TO BREAST CANCERR01CA077363 · NCI · UNIV OF MED/DENT NJ-R W JOHNSON MED SCH · PI LI, HONGHUA · 1998 to 2001
$436k
NCI NIH HHS R01 CA77363NCI NIH HHS R33 CA096309NHGRI NIH HHS R01 HG002094NHGRI NIH HHS R01 HG02094
6 · The paper itself

Abstract

A high-throughput genotyping system for scoring single nucleotide polymorphisms (SNPs) has been developed. With this system, >1000 SNPs can be analyzed in a single assay, with a sensitivity that allows the use of single haploid cells as starting material. In the multiplex polymorphic sequence amplification step, instead of attaching universal sequences to the amplicons, primers that are unlikely to have nonspecific and productive interactions are used. Genotypes of SNPs are then determined by using the widely accessible microarray technology and the simple single-base extension assay. Three SNP panels, each consisting of >1000 SNPs, were incorporated into this system. The system was used to analyze 24 human genomic DNA samples. With 5 ng of human genomic DNA, the average detection rate was 98.22% when single probes were used, and 96.71% could be detected by dual probes in different directions. When single sperm cells were used, 91.88% of the SNPs were detectable, which is comparable to the level that was reached when very few genetic markers were used. By using a dual-probe assay, the average genotyping accuracy was 99.96% for 5 ng of human genomic DNA and 99.95% for single sperm. This system may be used to significantly facilitate large-scale genetic analysis even if the amount of DNA template is very limited or even highly degraded as that obtained from paraffin-embedded cancer specimens, and to make many unpractical research projects highly realistic and affordable.

Indexed as

Genome, HumanHaploidyChromosome MappingComputational BiologyDNA PrimersGenotypeHumansMaleMicroarray AnalysisNucleic Acid Amplification TechniquesPolymorphism, Single NucleotideSensitivity and SpecificitySpermatozoaDNA Primers

Identifiers

PMID15687291
PMCPMC546529

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.