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Article

Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease.

BMC genomics - 23 Apr 2016

Olsson M, Kierczak M, Karlsson Å, Jabłońska J, Leegwater P, Koltookian M, Abadie J, De Citres C Dufaure, Thomas A, Hedhammar Å, Tintle L, Lindblad-Toh K, Meadows J R S

Abstract excerpt

BACKGROUND: Dissecting the role copy number variants (CNVs) play in disease pathogenesis is directly reliant on accurate methods for quantification. The Shar-Pei dog breed is predisposed to a complex autoinflammatory disease with numerous clinical manifestations. One such sign, recurrent fever, was previously shown to be significantly associated with a novel, but unstable CNV (CNV_16.1). Droplet digital PCR...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27107962
DOI: 10.1186/s12864-016-2619-0
PMCID: PMC4841964

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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