Evidence map›Paper›PMID 18559357›Full record

ArticleNucleic acids research2008

Impact of whole genome amplification on analysis of copy number variants.

T J Pugh, A D Delaney, N Farnoud, S Flibotte, M Griffith, H I Li, H Qian, P Farinha, R D Gascoyne, M A Marra

Open access · goldAbstract readValidation Study
In one paragraph

Article in Nucleic acids research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.

0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed
4.4field-weighted citation impact, top 5% of its field
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

43 citing papers in PubMed, 90 citations in OpenAlex.

  1. Article
  2. Cancer evolution: Darwin and beyond.The EMBO journal · 2021
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  16. Review
  17. Optimized whole-genome amplification strategy for extremely AT-biased template.DNA research : an international journal for rapid publication of reports on genes and genomes · 2014
    Article
  18. Review
  19. The applications of single-cell genomics.Human molecular genetics · 2013
    Review
  20. 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

10 authors at 1 institution in 1 country.

T J PughGenome Sciences Centre, BC Cancer Agency, Vancouver, BC, Canada.
A D Delaney
N Farnoud
S Flibotte
M Griffith
H I Li
H Qian
P Farinha
R D Gascoyne
M A Marra
BC Cancer Agency · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Large-scale copy number variants (CNVs) have recently been recognized to play a role in human genome variation and disease. Approaches for analysis of CNVs in small samples such as microdissected tissues can be confounded by limited amounts of material. To facilitate analyses of such samples, whole genome amplification (WGA) techniques were developed. In this study, we explored the impact of Phi29 multiple-strand displacement amplification on detection of CNVs using oligonucleotide arrays. We extracted DNA from fresh frozen lymph node samples and used this for amplification and analysis on the Affymetrix Mapping 500k SNP array platform. We demonstrated that the WGA procedure introduces hundreds of potentially confounding CNV artifacts that can obscure detection of bona fide variants. Our analysis indicates that many artifacts are reproducible, and may correlate with proximity to chromosome ends and GC content. Pair-wise comparison of amplified products considerably reduced the number of apparent artifacts and partially restored the ability to detect real CNVs. Our results suggest WGA material may be appropriate for copy number analysis when amplified samples are compared to similarly amplified samples and that only the CNVs with the greatest significance values detected by such comparisons are likely to be representative of the unamplified samples.

Indexed as

Genetic VariationArtifactsGene DosageGenome, HumanGenotypeHumansNucleic Acid Amplification TechniquesOligonucleotide Array Sequence Analysis

Identifiers

PMID18559357
PMCPMC2490749
OpenAlexW2102469725

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

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.