(Q34306097)

1 August 2017

title

Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort (English)

1 reference

1 August 2017

1 reference

5

Peter Vollenweider

0 references

Gérard Waeber

6

Gérard Waeber

0 references

Zoltán Kutalik

9

Zoltán Kutalik

1 reference

1 August 2017

Jacques S Beckmann

8

0 references

Armand Valsesia

Armand Valsesia

1

0 references

Sven Bergmann

10

Sven Bergmann

1 reference

1 August 2017

3

Dawn Waterworth

1 reference

1 August 2017

7

C Victor Jongeneel

1 reference

1 August 2017

4

Vincent Mooser

1 reference

1 August 2017

Brian J Stevenson

2

1 reference

1 August 2017

language of work or name

English

0 references

publication date

15 June 2012

1 reference

1 August 2017

1 reference

1 August 2017

volume

13

1 reference

1 August 2017

page(s)

241

1 reference

cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate

1 August 2017

cites work

1 reference

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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

6 July 2018

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Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

6 July 2018

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Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma

6 July 2018

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cn.FARMS: a latent variable model to detect copy number variations in microarray data with a low false discovery rate

6 July 2018

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

6 July 2018

1 reference

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Mapping copy number variation by population-scale genome sequencing

6 July 2018

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Accuracy of CNV Detection from GWAS Data

6 July 2018

1 reference

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The effect of algorithms on copy number variant detection

6 July 2018

1 reference

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Diversity of human copy number variation and multicopy genes

6 July 2018

1 reference

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A map of human genome variation from population-scale sequencing

6 July 2018

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Hundreds of variants clustered in genomic loci and biological pathways affect human height

6 July 2018

1 reference

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A multilevel model to address batch effects in copy number estimation using SNP arrays.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

6 July 2018

1 reference

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Computational methods for discovering structural variation with next-generation sequencing

6 July 2018

1 reference

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PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Origins and functional impact of copy number variation in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Identification of seven new prostate cancer susceptibility loci through a genome-wide association study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Sensitive and accurate detection of copy number variants using read depth of coverage

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Genome-wide association study identifies eight loci associated with blood pressure

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Joint estimation of copy number variation and reference intensities on multiple DNA arrays using GADA.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

A single-sample method for normalizing and combining full-resolution copy numbers from multiple platforms, labs and analysis methods

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Population analysis of large copy number variants and hotspots of human genetic disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Variants in MTNR1B influence fasting glucose levels

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

The diploid genome sequence of an Asian individual

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

A robust statistical method for case-control association testing with copy number variation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Integrated detection and population-genetic analysis of SNPs and copy number variation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Copy number variation and evolution in humans and chimpanzees

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Automating dChip: toward reproducible sharing of microarray data analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Common variants near MC4R are associated with fat mass, weight and risk of obesity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Genome-wide association analysis identifies 20 loci that influence adult height

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Genotype, haplotype and copy-number variation in worldwide human populations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Multiple loci identified in a genome-wide association study of prostate cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

LDL-cholesterol concentrations: a genome-wide association study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Estimation and assessment of raw copy numbers at the single locus level

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Sparse representation and Bayesian detection of genome copy number alterations from microarray data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

CGH microarrays and cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

The diploid genome sequence of an individual human

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

PLINK: a tool set for whole-genome association and population-based linkage analyses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

A maximum-likelihood method for the estimation of pairwise relatedness in structured populations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

The application of microarray technology to the analysis of the cancer genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

A faster circular binary segmentation algorithm for the analysis of array CGH data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Global variation in copy number in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Copy number variation: new insights in genome diversity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Performance of marker-based relatedness estimators in natural populations of outbred vertebrates

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Hotspots for copy number variation in chimpanzees and humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Structural variation in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Allele-specific amplification in cancer revealed by SNP array analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

A comparison study: applying segmentation to array CGH data for downstream analyses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Comparative analysis of algorithms for identifying amplifications and deletions in array CGH data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Array comparative genomic hybridization and its applications in cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Segmental duplications and copy-number variation in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Fine-scale structural variation of the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Whole genome DNA copy number changes identified by high density oligonucleotide arrays

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Circular binary segmentation for the analysis of array-based DNA copy number data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Detection of large-scale variation in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Large-scale copy number polymorphism in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

The International HapMap Project

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Maximum-likelihood estimation of relatedness.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464625

Segmental copy number variation shapes tissue transcriptomes.

6 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-13-241

cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-13-241

Detection of gene copy number changes in CGH microarrays using a spatially correlated mixture model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-13-241

Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-13-241

[Health examination survey of the Lausanne population: first results of the CoLaus study]

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22702538

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2164-13-241

1 reference

1 August 2017

1 reference

1 August 2017

1 reference