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 claude@2026-06, 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

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. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (50)

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