Evidence map›Paper›PMID 20021669›Full record

ArticleBMC genetics2009

Assessing the utility of whole-genome amplified serum DNA for array-based high throughput genotyping.

Kristine L Bucasas, Gagan A Pandya, Sonal Pradhan, Robert D Fleischmann, Scott N Peterson, John W Belmont

Abstract readComparative Study
In one paragraph

Article in BMC genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
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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

6 authors.

Kristine L BucasasDepartment of Immunology, Baylor College of Medicine, Houston, TX 77030, USA. lacuesta@bcm.edu
Gagan A Pandya
Sonal Pradhan
Robert D Fleischmann
Scott N Peterson
John W Belmont

Funding

Gene Variation and Responsiveness to Influenza VaccinesF31AI071372 · NIAID · BAYLOR COLLEGE OF MEDICINE · PI BUCASAS, KRISTINE LACUESTA · 2008 to 2010
$97k
VIRAL RESPIRATORY PATHOGENS RESEARCH UNIT /VRPRU/-266030039-266030039N01AI030039 · NIAID · BAYLOR COLLEGE OF MEDICINE INC · PI COUCH, ROBERT B. · 2003 to 2006
–
NIAID NIH HHS F31AI071372-02NIAID NIH HHS N01-AI-15447NIAID NIH HHS N01-AI-30039
6 · The paper itself

Abstract

backgroundWhole genome amplification (WGA) offers new possibilities for genome-wide association studies where limited DNA samples have been collected. This study provides a realistic and high-precision assessment of WGA DNA genotyping performance from 20-year old archived serum samples using the Affymetrix Genome-Wide Human SNP Array 6.0 (SNP6.0) platform.

resultsWhole-genome amplified (WGA) DNA samples from 45 archived serum replicates and 5 fresh sera paired with non-amplified genomic DNA were genotyped in duplicate. All genotyped samples passed the imposed QC thresholds for quantity and quality. In general, WGA serum DNA samples produced low call rates (45.00 +/- 2.69%), although reproducibility for successfully called markers was favorable (concordance = 95.61 +/- 4.39%). Heterozygote dropouts explained the majority (>85% in technical replicates, 50% in paired genomic/serum samples) of discordant results. Genotyping performance on WGA serum DNA samples was improved by implementation of Corrected Robust Linear Model with Maximum Likelihood Classification (CRLMM) algorithm but at the loss of many samples which failed to pass its quality threshold. Poor genotype clustering was evident in the samples that failed the CRLMM confidence threshold.

conclusionsWe conclude that while it is possible to extract genomic DNA and subsequently perform whole-genome amplification from archived serum samples, WGA serum DNA did not perform well and appeared unsuitable for high-resolution genotyping on these arrays.

Indexed as

Genome, HumanGenome-Wide Association StudyNucleic Acid Amplification TechniquesAlgorithmsCluster AnalysisGenotypeHumansLikelihood FunctionsModels, GeneticPolymorphism, Single NucleotideQuality ControlSequence Analysis, DNA

Identifiers

PMID20021669
PMCPMC2803178

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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.