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Article

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

Journal of applied genetics - 1 May 2017

Szczałuba Krzysztof, Demkow Urszula

Abstract excerpt

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...

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Share to Abnormalities, Multiple
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

Source

Identifiers

PMID: 27858254
DOI: 10.1007/s13353-016-0376-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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