Evidence map›Paper›PMID 27858254›Full record

ReviewJournal of applied genetics2017

Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies.

Krzysztof Szczałuba, Urszula Demkow

Registry-linked trialAbstract readReview
PubMed Publisher
In one paragraph

Review in Journal of applied genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06694896 (Microarray Application in Newborns With Multiple Congenital Anomalies), which is not on this 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.

NCT06694896 nacompletednot on this mapstarted 2022, after this paper: background citation

Microarray Application in Newborns With Multiple Congenital Anomalies: Genotype-Phenotype Correlation

TypeinterventionalSponsorKonya City HospitalRan2022 to 2024Enrolled63ConditionsMultiple AbnormaliesArmsMicroarray Application
3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
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

2 authors.

Krzysztof SzczałubaDepartment of Medical Genetics, Warsaw Medical University, Pawińskiego 3c, 02-106, Warsaw, Poland. krzysztof.szczaluba@gmail.com.ORCID http://orcid.org/0000-0001-8803-646X
Urszula DemkowDepartment of Laboratory Diagnostics and Clinical Immunology of Developmental Age, Warsaw Medical University, Żwirki i Wigury 63A, 02-091, Warsaw, Poland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The aim of this review is to provide the current state of knowledge about the usefulness of modern genetic technologies in uncovering the causality of isolated and multiple congenital anomalies. Array comparative genomic hybridization and next-generation sequencing have revolutionized the clinical approach to patients with these phenotypes. Both technologies enable early diagnosis, especially in clinically challenging newborn populations, and help to uncover genetic defects associated with various phenotypes. The application of both complementary methods could assist in identifying many variants that may simultaneously be involved in the development of a number of isolated or multiple congenital anomalies. Both technologies carry serious variant misinterpretation risks as well. Therefore, the methods of variant classification and accessible variant databases are mentioned. A useful strategy of clinical genetic testing with the application of both methodologies is presented. Finally, future directions and challenges are briefly commented on in this review.

Indexed as

Abnormalities, MultipleComparative Genomic HybridizationDNA Copy Number VariationsHigh-Throughput Nucleotide SequencingHumansInfant, NewbornPhenotypePolymorphism, Single NucleotideArray comparative genomic hybridizationCongenital anomaliesNext-generation sequencingVariant

Identifiers

PMID27858254

What OpenQuestion holds

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Registered trials

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.