The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation (Q28685216)

5

0 references

Jacques S Beckmann

object named as

Jacques S Beckmann

4

0 references

Armand Valsesia

object named as

Armand Valsesia

1

0 references

author name string

Aurélien Macé

2

0 references

Sébastien Jacquemont

3

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language of work or name

English

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publication date

2013

0 references

published in

Frontiers in Genetics

1 reference

Text-mining solutions for biomedical research: enabling integrative biology

Crossref

volume

4

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page(s)

92

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cites work

1 reference

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An integrated map of genetic variation from 1,092 human genomes

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An integrated encyclopedia of DNA elements in the human genome

17 March 2017

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The UCSC genome browser and associated tools

17 March 2017

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Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

17 March 2017

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CNVs: harbingers of a rare variant revolution in psychiatric genetics

17 March 2017

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Efficient de novo assembly of large genomes using compressed data structures

17 March 2017

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17 March 2017

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

17 March 2017

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Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

17 March 2017

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Mapping copy number variation by population-scale genome sequencing

17 March 2017

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Diversity of human copy number variation and multicopy genes

17 March 2017

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A map of human genome variation from population-scale sequencing

17 March 2017

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Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

17 March 2017

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A genome-wide study reveals copy number variants exclusive to childhood obesity cases

17 March 2017

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

17 March 2017

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

17 March 2017

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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

17 March 2017

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A method and server for predicting damaging missense mutations

17 March 2017

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Integrative analysis of the melanoma transcriptome

17 March 2017

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De novo assembly of human genomes with massively parallel short read sequencing

17 March 2017

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Large, rare chromosomal deletions associated with severe early-onset obesity

17 March 2017

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Microduplications of 16p11.2 are associated with schizophrenia

17 March 2017

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

17 March 2017

1 reference

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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

17 March 2017

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PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data

17 March 2017

1 reference

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Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

17 March 2017

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

17 March 2017

1 reference

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Comprehensive genomic characterization defines human glioblastoma genes and core pathways

17 March 2017

1 reference

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Large recurrent microdeletions associated with schizophrenia

17 March 2017

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Rare chromosomal deletions and duplications increase risk of schizophrenia

17 March 2017

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Strong association of de novo copy number mutations with sporadic schizophrenia

17 March 2017

1 reference

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Mapping and sequencing of structural variation from eight human genomes

17 March 2017

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Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

17 March 2017

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Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

17 March 2017

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Paired-end mapping reveals extensive structural variation in the human genome

17 March 2017

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Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution

17 March 2017

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The population genetics of structural variation

17 March 2017

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A high-resolution map of segmental DNA copy number variation in the mouse genome

17 March 2017

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Global variation in copy number in the human genome

17 March 2017

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BAC to the future! or oligonucleotides: a perspective for micro array comparative genomic hybridization (array CGH)

17 March 2017

1 reference

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Structural variation in the human genome

17 March 2017

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Allele-specific amplification in cancer revealed by SNP array analysis

17 March 2017

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Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles

17 March 2017

1 reference

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Segmental duplications and copy-number variation in the human genome

17 March 2017

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Fine-scale structural variation of the human genome

17 March 2017

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The Sequence Ontology: a tool for the unification of genome annotations

17 March 2017

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Detection of large-scale variation in the human genome

17 March 2017

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The International HapMap Project

17 March 2017

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Population stratification and spurious allelic association

17 March 2017

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

17 March 2017

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Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

7 April 2017

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

7 April 2017

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ABySS: a parallel assembler for short read sequence data

7 April 2017

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Genomic control for association studies

7 April 2017

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Exome sequencing as a tool for Mendelian disease gene discovery

7 April 2017

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A copy number variation morbidity map of developmental delay

7 April 2017

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Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

7 April 2017

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Common regulatory variation impacts gene expression in a cell type-dependent manner

7 April 2017

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

7 April 2017

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

7 April 2017

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

7 April 2017

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Relative impact of nucleotide and copy number variation on gene expression phenotypes

7 April 2017

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

7 April 2017

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

7 April 2017

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Substantial biases in ultra-short read data sets from high-throughput DNA sequencing

7 April 2017

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GOstat: find statistically overrepresented Gene Ontologies within a group of genes

7 April 2017

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Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors

7 April 2017

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A hybrid likelihood model for sequence-based disease association studies

7 April 2017

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The limitations of simple gene set enrichment analysis assuming gene independence

3 June 2018

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Phenotypic heterogeneity of genomic disorders and rare copy-number variants

3 June 2018

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EnrichNet: network-based gene set enrichment analysis.

3 June 2018

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The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits

3 June 2018

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Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies

3 June 2018

1 reference

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

3 June 2018

1 reference

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Optimal tests for rare variant effects in sequencing association studies

3 June 2018

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Rapid whole-genome sequencing for investigation of a neonatal MRSA outbreak

3 June 2018

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Savant Genome Browser 2: visualization and analysis for population-scale genomics

3 June 2018

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A critical assessment of storytelling: gene ontology categories and the importance of validating genomic scans.

3 June 2018

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Copy number variation detection and genotyping from exome sequence data

3 June 2018

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CONTRA: copy number analysis for targeted resequencing

3 June 2018

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ARIEL and AMELIA: testing for an accumulation of rare variants using next-generation sequencing data

3 June 2018

1 reference

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Reconsidering association testing methods using single-variant test statistics as alternatives to pooling tests for sequence data with rare variants

3 June 2018

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Next-generation genetic testing for retinitis pigmentosa

3 June 2018

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Integrative gene network analysis provides novel regulatory relationships, genetic contributions and susceptible targets in autism spectrum disorders

3 June 2018

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

3 June 2018

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Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

3 June 2018

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De novo assembly and genotyping of variants using colored de Bruijn graphs

3 June 2018

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Massively parallel sequencing approaches for characterization of structural variation

3 June 2018

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Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms

3 June 2018

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Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia

3 June 2018

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Integrative genomics strategies to elucidate the complexity of drug response

3 June 2018

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Identification of causal genes, networks, and transcriptional regulators of REM sleep and wake

3 June 2018

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

3 June 2018

1 reference

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Comparative analysis of algorithms for next-generation sequencing read alignment

3 June 2018

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Genome-wide algorithm for detecting CNV associations with diseases

3 June 2018

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BioGraph: unsupervised biomedical knowledge discovery via automated hypothesis generation

3 June 2018

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From sets to graphs: towards a realistic enrichment analysis of transcriptomic systems

3 June 2018

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Whole-genome sequencing for optimized patient management

3 June 2018

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Software comparison for evaluating genomic copy number variation for Affymetrix 6.0 SNP array platform.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Prioritizing candidate disease genes by network-based boosting of genome-wide association data.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Testing for an unusual distribution of rare variants

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

aCGH.Spline--an R package for aCGH dye bias normalization

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

A guide to web tools to prioritize candidate genes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

A human genome structural variation sequencing resource reveals insights into mutational mechanisms

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

An initial comparative map of copy number variations in the goat (Capra hircus) genome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Rare Variant Association Analysis Methods for Complex Traits

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Detection of clinically relevant exonic copy-number changes by array CGH.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Allele-specific copy number analysis of tumors

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Detecting copy number variation with mated short reads

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

On the genome-wide analysis of copy number variants in family-based designs: methods for combining family-based and population-based information for testing dichotomous or quantitative traits, or completely ascertained samples

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Assessing the functional coherence of gene sets with metrics based on the Gene Ontology graph

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Efficient construction of an assembly string graph using the FM-index

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Genetic structure of the Spanish population.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Genome-wide association studies in diverse populations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Analysis of copy number variations among diverse cattle breeds.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Variance component model to account for sample structure in genome-wide association studies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Automated network analysis identifies core pathways in glioblastoma

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Genome variation discovery with high-throughput sequencing data

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

The pitfalls of platform comparison: DNA copy number array technologies assessed

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Population-genetic nature of copy number variations in the human genome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Next generation sequence analysis for mitochondrial disorders

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Computational methods for discovering structural variation with next-generation sequencing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Statistical issues in the analysis of DNA Copy Number Variations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Comparing CNV detection methods for SNP arrays

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Personalized copy number and segmental duplication maps using next-generation sequencing.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Copy number variation in human health, disease, and evolution

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

A comprehensive profile of DNA copy number variations in a Korean population: identification of copy number invariant regions among Koreans

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Comparative genomic hybridization: DNA labeling, hybridization and detection

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Rapid and accurate multiple testing correction and power estimation for millions of correlated markers

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Copy number variation in African Americans

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

High-resolution mapping of copy-number alterations with massively parallel sequencing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Copy number variations (CNVs) identified in Korean individuals

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Extending genome-wide association studies to copy-number variation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Copy number variation and evolution in humans and chimpanzees

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Comparison of vocabularies, representations and ranking algorithms for gene prioritization by text mining.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

A probe-density-based analysis method for array CGH data: simulation, normalization and centralization.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Kernel-based association test

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

ENDEAVOUR update: a web resource for gene prioritization in multiple species

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Segmental copy-number variation observed in Japanese by array-CGH.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

A portrait of copy-number polymorphism in Drosophila melanogaster

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Pathway-based approaches for analysis of genomewide association studies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Methods and strategies for analyzing copy number variation using DNA microarrays

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Medical applications of array CGH and the transformation of clinical cytogenetics

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Accurate and reliable high-throughput detection of copy number variation in the human genome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Copy number variation: new insights in genome diversity

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Combination of text-mining algorithms increases the performance

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Array comparative genomic hybridization and its applications in cancer

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Microarray-based comparative genomic hybridization and its applications in human genetics

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Analysis of array CGH data: from signal ratio to gain and loss of DNA regions

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Non-B DNA conformations, genomic rearrangements, and human disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

An unusual karyotype in a patient with signs suggestive of Down's syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Evidence for progressional changes in the human malignant glioma line U-343 MGa: analysis of karyotype and expression of genes encoding the subunit chains of platelet-derived growth factor.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Interpretation of genomic copy number variants using DECIPHER.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Pitfalls in the use of DGV for CNV interpretation

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

The Deciphering Developmental Disorders (DDD) study

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Primer-initiated sequence synthesis to detect and assemble structural variants.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Methods for testing association between uncertain genotypes and quantitative traits

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

MoDIL: detecting small indels from clone-end sequencing with mixtures of distributions

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Segmental copy number variation shapes tissue transcriptomes

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Distribution and functional impact of DNA copy number variation in the rat.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

A multiple testing correction method for genetic association studies using correlated single nucleotide polymorphisms

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

On the analysis of copy-number variations in genome-wide association studies: a translation of the family-based association test

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

Common deletion polymorphisms in the human genome.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

A simple correction for multiple comparisons in interval mapping genome scans.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3667386

G-banding patterns in mouse lymphoblastic leukemia L1210

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23750167

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A high-resolution survey of deletion polymorphism in the human genome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23750167

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3389/FGENE.2013.00092

1 reference

1 reference

1 reference

PubMed publication ID

23750167

1 reference