Evidence map›Paper›PMID 26665001›Full record

ReviewBioMed research international2015

Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives.

Vincenza Precone, Valentina Del Monaco, Maria Valeria Esposito, Fatima Domenica Elisa De Palma, Anna Ruocco, Francesco Salvatore, Valeria D'Argenio

Abstract readReview
In one paragraph

Review in BioMed research international, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing 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

25 citing papers in PubMed.

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  19. AGD: Aneurysm Gene Database.Database : the journal of biological databases and curation · 2018
    Article
  20. A common microbial signature is present in the lower airways of interstitial lung diseases including sarcoidosis.Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG · 2018
    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.

Vincenza PreconeCEINGE-Biotecnologie Avanzate, Via G Salvatore 486, 80145 Naples, Italy ; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Ed. 19, Via Sergio Pansini 5, 80131 Naples, Italy.
Valentina Del MonacoCEINGE-Biotecnologie Avanzate, Via G Salvatore 486, 80145 Naples, Italy ; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Ed. 19, Via Sergio Pansini 5, 80131 Naples, Italy.
Maria Valeria EspositoCEINGE-Biotecnologie Avanzate, Via G Salvatore 486, 80145 Naples, Italy.
Fatima Domenica Elisa De PalmaCEINGE-Biotecnologie Avanzate, Via G Salvatore 486, 80145 Naples, Italy ; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Ed. 19, Via Sergio Pansini 5, 80131 Naples, Italy.
Anna RuoccoCEINGE-Biotecnologie Avanzate, Via G Salvatore 486, 80145 Naples, Italy ; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Ed. 19, Via Sergio Pansini 5, 80131 Naples, Italy.
Francesco SalvatoreCEINGE-Biotecnologie Avanzate, Via G Salvatore 486, 80145 Naples, Italy ; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Ed. 19, Via Sergio Pansini 5, 80131 Naples, Italy ; IRCCS-Fondazione SDN, 80143 Naples, Italy.ORCID 0000-0002-2346-3564
Valeria D'ArgenioCEINGE-Biotecnologie Avanzate, Via G Salvatore 486, 80145 Naples, Italy ; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Ed. 19, Via Sergio Pansini 5, 80131 Naples, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Next-generation sequencing (NGS) technologies have greatly impacted on every field of molecular research mainly because they reduce costs and increase throughput of DNA sequencing. These features, together with the technology's flexibility, have opened the way to a variety of applications including the study of the molecular basis of human diseases. Several analytical approaches have been developed to selectively enrich regions of interest from the whole genome in order to identify germinal and/or somatic sequence variants and to study DNA methylation. These approaches are now widely used in research, and they are already being used in routine molecular diagnostics. However, some issues are still controversial, namely, standardization of methods, data analysis and storage, and ethical aspects. Besides providing an overview of the NGS-based approaches most frequently used to study the molecular basis of human diseases at DNA level, we discuss the principal challenges and applications of NGS in the field of human genomics.

Indexed as

GenomicsDatabases, GeneticDNA MethylationGenetic Diseases, InbornGenome, HumanHigh-Throughput Nucleotide SequencingHumansMutation

Identifiers

PMID26665001
PMCPMC4668301

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.