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Article

Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing.

Annals of human genetics - 1 Jan 2021

Villela Darine, de Barros Juliana Sobral, da Costa Silvia Souza, Aguiar Talita F M, Campagnari Francine, Vianna-Morgante Angela M, Krepischi Ana C V, Rosenberg Carla

Abstract excerpt

Mosaic segmental and whole chromosome copy number alterations are postzygotic variations known to be associated with several disorders. We have previously presented an efficient targeted sequencing approach to simultaneously detect point mutations and copy number variations (CNVs). In this study, we evaluated the efficiency of this approach to detect mosaic CNVs, using seven postnatal and 19 tumor samples,...

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Share to DNA Copy Number Variations
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 32761927
DOI: 10.1111/ahg.12402

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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