Evidence map›Paper›PMID 34649833›Full record

ReviewBiomedical journal2021

DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects.

Ondrej Pös, Jan Radvanszky, Gergely Buglyó, Zuzana Pös, Diana Rusnakova, Bálint Nagy, Tomas Szemes

Abstract readReview
In one paragraph

Review in Biomedical journal, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 161 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
161citing papers in PubMed, 4 pooled it
–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

161 citing papers in PubMed, 4 syntheses or guidelines pooled it.

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101 more citing papers are in PubMed but not listed here.

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.

Ondrej PösDepartment of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Geneton s.r.o., Bratislava, Slovakia.
Jan RadvanszkyGeneton s.r.o., Bratislava, Slovakia; Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia; Comenius University Science Park, Bratislava, Slovakia. Electronic address: jradvanszky@gmail.com.
Gergely BuglyóDepartment of Human Genetics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
Zuzana PösDepartment of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Geneton s.r.o., Bratislava, Slovakia; Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
Diana RusnakovaDepartment of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Geneton s.r.o., Bratislava, Slovakia.
Bálint NagyDepartment of Human Genetics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary. Electronic address: nagy.balint@med.unideb.hu.
Tomas SzemesDepartment of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Geneton s.r.o., Bratislava, Slovakia; Comenius University Science Park, Bratislava, Slovakia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Copy number variants (CNVs) were the subject of extensive research in the past years. They are common features of the human genome that play an important role in evolution, contribute to population diversity, development of certain diseases, and influence host-microbiome interactions. CNVs have found application in the molecular diagnosis of many diseases and in non-invasive prenatal care, but their full potential is only emerging. CNVs are expected to have a tremendous impact on screening, diagnosis, prognosis, and monitoring of several disorders, including cancer and cardiovascular disease. Here, we comprehensively review basic definitions of the term CNV, outline mechanisms and factors involved in CNV formation, and discuss their evolutionary and pathological aspects. We suggest a need for better defined distinguishing criteria and boundaries between known types of CNVs.

Indexed as

DNA Copy Number VariationsFemaleHumansPregnancyCNV formationCopy number variantsEvolutionGenetic diseasesHuman genomeStructural variation

Identifiers

PMID34649833
PMCPMC8640565

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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 Socratic graph.