Evidence map›Paper›PMID 11230165›Full record

ArticleGenome research2001

High-performance multiplex SNP analysis of three hemochromatosis-related mutations with capillary array electrophoresis microplates.

I Medintz, W W Wong, L Berti, L Shiow, J Tom, J Scherer, G Sensabaugh, R A Mathies

Abstract read
In one paragraph

Article in Genome research, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Review
  2. Review
  3. Review
  4. Electrophoretic separations on microfluidic chips.Journal of chromatography. A · 2008
    Review
  5. Article
  6. High-throughput SNP genotyping.Comparative and functional genomics · 2002
    Article
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

8 authors.

I MedintzDepartment of Chemistry, University of California, Berkeley, California 94720, USA.
W W Wong
L Berti
L Shiow
J Tom
J Scherer
G Sensabaugh
R A Mathies

Funding

Tissue CoreP01CA077664 · NCI · JOHNS HOPKINS UNIVERSITY · PI MATHIES, RICHARD A · 1999 to 2009
$8.5M
MINIATURIZED INTEGRATED DNA ANALYSIS SYSTEMSR01HG001399 · NHGRI · UNIVERSITY OF CALIFORNIA BERKELEY · PI MATHIES, RICHARD A · 1995 to 2004
$2.1M
NCI NIH HHS P01 CA077664NCI NIH HHS P01 CA77664NHGRI NIH HHS HG01399NHGRI NIH HHS R01 HG001399
6 · The paper itself

Abstract

An assay is described for high-throughput single nucleotide polymorphism (SNP) genotyping on a microfabricated capillary array electrophoresis (CAE) microchip. The assay targets the three common variants at the HFE locus associated with the genetic disease hereditary hemochromatosis (HHC). The assay employs allele-specific PCR (ASPCR) for the C282Y (845g->a), H63D (187c->g), and S65C (193a->t) variants using fluorescently-labeled energy-transfer (ET) allele-specific primers. Using a 96-channel radial CAE microplate, the labeled ASPCR products generated from 96 samples in a reference Caucasian population are simultaneously separated with single-base-pair resolution and genotyped in under 10 min. Detection is accomplished with a laser-excited rotary four-color fluorescence scanner. The allele-specific amplicons are differentiated on the basis of both their size and the color of the label emission. This study is the first demonstration of the combined use of ASPCR with ET primers and microfabricated radial CAE microplates to perform multiplex SNP analyses in a clinically relevant population.

Indexed as

AllelesDNA Mutational AnalysisElectrophoresis, CapillaryGene FrequencyHemochromatosisHumansMutationNucleic Acid Amplification TechniquesPolymerase Chain ReactionPolymorphism, Single Nucleotide

Identifiers

PMID11230165
PMCPMC311034

What OpenQuestion holds

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Registered trials

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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.