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Article

Comprehensive assessment of sequence variation within the copy number variable defensin cluster on 8p23 by target enriched in-depth 454 sequencing.

BMC genomics - 18 May 2011

Taudien Stefan, Szafranski Karol, Felder Marius, Groth Marco, Huse Klaus, Raffaelli Francesca, Petzold Andreas, Zhang Xinmin, Rosenstiel Philip, Hampe Jochen, Schreiber Stefan, Platzer Matthias

Abstract excerpt

BACKGROUND: In highly copy number variable (CNV) regions such as the human defensin gene locus, comprehensive assessment of sequence variations is challenging. PCR approaches are practically restricted to tiny fractions, and next-generation sequencing (NGS) approaches of whole individual genomes e.g. by the 1000 Genomes Project is confined by an affordable sequence depth. Combining target enrichment with NGS may...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21592371
DOI: 10.1186/1471-2164-12-243
PMCID: PMC3118217

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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