Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study.

Human mutation - 1 Feb 2011

Marenne Gaëlle, Rodríguez-Santiago Benjamín, Closas Montserrat García, Pérez-Jurado Luis, Rothman Nathaniel, Rico Daniel, Pita Guillermo, Pisano David G, Kogevinas Manolis, Silverman Debra T, Valencia Alfonso, Real Francisco X, Chanock Stephen J, Génin Emmanuelle, Malats Núria

Abstract excerpt

High-throughput single nucleotide polymorphism (SNP)-array technologies allow to investigate copy number variants (CNVs) in genome-wide scans and specific calling algorithms have been developed to determine CNV location and copy number. We report the results of a reliability analysis comparing data from 96 pairs of samples processed with CNVpartition, PennCNV, and QuantiSNP for Infinium Illumina Human 1Million...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Algorithms
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome, Human

Share to Oligonucleotide Array Sequence Analysis

Share to Polymorphism, Single Nucleotide

Share to Reproducibility of Results

Share to Sensitivity and Specificity

Share to Urinary Bladder Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 21089066
DOI: 10.1002/humu.21398
PMCID: PMC3230937

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study.PMID 21089066Read ↗

Clinical impact of copy number variation changes in bladder cancer samplesSemantic proximity Read ↗

A systematic benchmark of copy number variation detection tools for high density SNP genotyping arrays.Semantic proximity Read ↗

Genome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array data.Semantic proximity Read ↗

Critical evaluation of copy number variant calling methods using DNA methylation.Semantic proximity Read ↗

Analyzing copy number variation using SNP array data: protocols for calling CNV and association tests.Semantic proximity Read ↗

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.Semantic proximity Read ↗

Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data.Semantic proximity Read ↗

Copy number variation accuracy in genome-wide association studies.Semantic proximity Read ↗

Genome-wide algorithm for detecting CNV associations with diseases.Semantic proximity Read ↗

Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort.Semantic proximity Read ↗

An MLPA-based strategy for discrete CNV genotyping: CNV-miRNAs as an example.Semantic proximity Read ↗

Crucial parameters for precise copy number variation detection in formalin-fixed paraffin-embedded solid cancer samples.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.