Faculty Opinions recommendation of Copy number variation analysis reveals additional variants contributing to endometriosis development.

Edgardo Rolla
In: Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2019 · doi:10.3410/f.727087425.793557775 · W4245845647
dataset OA: green CC0
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⚙ AI-generated summary by gemini-2.5-flash-lite, 2026-06-09 ⓘ

This study utilized SNP-array technology to identify copy number variations associated with endometriosis development in patients and controls.

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Abstract

Purpose Endometriosis is a gynecological disease influenced by multiple genetic and environmental factors. The aim of the current study was to use SNP-array technology to identify genomic aberrations that may possibly contribute to the development of endometriosis. Methods We performed an SNP-array genotyping of pooled DNA samples from both patients (n = 100) and controls (n = 50). Copy number variation (CNV) calling and association analyses were performed using PennCNV software. MLPA and TaqMan Copy-Number assays were used for validation of CNVs discovered.

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Condition tags

endometriosis

Citation neighborhood (2-hop)

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. Outer rings show 2-hop neighbours — papers reached through the immediate citers/citees. [ collapse to 1-hop ]

References (50)

Source provenance

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