Evidence map›Paper›PMID 26864517›Full record

ArticleScientific reports2016

Assessment of the latest NGS enrichment capture methods in clinical context.

Gema García-García, David Baux, Valérie Faugère, Mélody Moclyn, Michel Koenig, Mireille Claustres, Anne-Françoise Roux

Abstract read
In one paragraph

Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.

0numbers the graph read from it
0cells of the map it votes in
50citing 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

50 citing papers in PubMed.

  1. Review
  2. Review
  3. Review
  4. Review
  5. Article
  6. Article
  7. Targeted Next-Generation Sequencing in Rare Diseases.Methods in molecular biology (Clifton, N.J.) · 2025
    Article
  8. Article
  9. Article
  10. Whole genome sequencing ofFrontiers in microbiology · 2023
    Article
  11. Article
  12. Review
  13. Article
  14. Article
  15. Review
  16. Article
  17. Article
  18. Review
  19. 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

7 authors.

Gema García-GarcíaLaboratoire de génétique de maladies rares, EA 7402, Université de Montpellier, Montpellier, France.
David BauxLaboratoire de génétique moléculaire, CHRU Montpelier, Montpellier, France.
Valérie FaugèreLaboratoire de génétique moléculaire, CHRU Montpelier, Montpellier, France.
Mélody MoclynLaboratoire de génétique moléculaire, CHRU Montpelier, Montpellier, France.
Michel KoenigLaboratoire de génétique de maladies rares, EA 7402, Université de Montpellier, Montpellier, France.
Mireille ClaustresLaboratoire de génétique de maladies rares, EA 7402, Université de Montpellier, Montpellier, France.
Anne-Françoise RouxLaboratoire de génétique de maladies rares, EA 7402, Université de Montpellier, Montpellier, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Enrichment capture methods for NGS are widely used, however, they evolve rapidly and it is necessary to periodically measure their strengths and weaknesses before transfer to diagnostic services. We assessed two recently released custom DNA solution-capture enrichment methods for NGS, namely Illumina NRCCE and Agilent SureSelect(QXT), against a reference method NimbleGen SeqCap EZ Choice on a similar gene panel, sharing 678 kb and 110 genes. Two Illumina MiSeq runs of 12 samples each have been performed, for each of the three methods, using the same 24 patients (affected with sensorineural disorders). Technical outcomes have been computed and compared, including depth and evenness of coverage, enrichment in targeted regions, performance in GC-rich regions and ability to generate consistent variant datasets. While we show that the three methods resulted in suitable datasets for standard DNA variant discovery, we describe significant differences between the results for the above parameters. NimbleGen offered the best depth of coverage and evenness, while NRCCE showed the highest on target levels but high duplicate rates. SureSelect(QXT) showed an overall quality close to that of NimbleGen. The new methods exhibit reduced preparation time but behave differently. These findings will guide laboratories in their choice of library enrichment approach.

Indexed as

Base CompositionGenes, RecessiveHearing Loss, FunctionalHigh-Throughput Nucleotide SequencingHumansRetinitis PigmentosaSequence Analysis, DNAUsher Syndromes

Identifiers

PMID26864517
PMCPMC4750071

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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.