Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants (Q28732264)

8

Bhooma Thiruvahindrapuram

0 references

Stephen W. Scherer

21

Stephen W Scherer

0 references

Aparna Prasad

Aparna Prasad

11

0 references

Ryan E. Mills

Ryan Mills

10

0 references

Dalila Pinto

Dalila Pinto

1

0 references

Jeffrey R MacDonald

Jeffrey R Macdonald

9

0 references

Lars Feuk

22

Lars Feuk

0 references

Anath C. Lionel

7

Anath C Lionel

0 references

Matthew Hurles

18

Matthew E Hurles

0 references

Patricia K. Donahoe

15

Patricia K Donahoe

0 references

Nigel Carter

19

Nigel P Carter

0 references

author name string

Katayoon Darvishi

2

0 references

Xinghua Shi

3

0 references

Diana Rajan

4

0 references

Diane Rigler

5

0 references

Tom Fitzgerald

6

0 references

Kristin Noonan

12

0 references

Susan Gribble

13

0 references

Elena Prigmore

14

0 references

Richard S Smith

16

0 references

Ji Hyeon Park

17

0 references

Charles Lee

Mapping copy number variation by population-scale genome sequencing

20

0 references

language of work or name

English

0 references

publication date

8 May 2011

0 references

published in

Nature Biotechnology

0 references

volume

29

0 references

page(s)

512-20

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issue

6

0 references

cites work

1 reference

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A map of human genome variation from population-scale sequencing

17 March 2017

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Functional impact of global rare copy number variation in autism spectrum disorders

17 March 2017

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Towards a comprehensive structural variation map of an individual human genome

17 March 2017

1 reference

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

17 March 2017

1 reference

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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

1 reference

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Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library

17 March 2017

1 reference

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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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Copy number variation at 1q21.1 associated with neuroblastoma

17 March 2017

1 reference

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Strong association of de novo copy number mutations with sporadic schizophrenia

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Mapping and sequencing of structural variation from eight human genomes

17 March 2017

1 reference

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Structural variation of chromosomes in autism spectrum disorder

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Global variation in copy number in the human genome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Fine-scale structural variation of the human genome

17 March 2017

1 reference

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Detection of large-scale variation in the human genome

17 March 2017

1 reference

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Large-scale copy number polymorphism in the human genome

17 March 2017

1 reference

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The International HapMap Project

17 March 2017

1 reference

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Evaluation of gene expression measurements from commercial microarray platforms

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Microarray results: how accurate are they?

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

17 March 2017

1 reference

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Tackling the widespread and critical impact of batch effects in high-throughput data

7 April 2017

1 reference

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Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

9 May 2017

1 reference

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Comparing CNV detection methods for SNP arrays

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Comparison of comparative genomic hybridization technologies across microarray platforms

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Comparison of the Agilent, ROMA/NimbleGen and Illumina platforms for classification of copy number alterations in human breast tumors

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

A comparison of DNA copy number profiling platforms

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Array-based DNA diagnostics: let the revolution begin

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Copy-number variation in control population cohorts

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Challenges and standards in integrating surveys of structural variation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

A new look towards BAC-based array CGH through a comprehensive comparison with oligo-based array CGH.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Resolving the resolution of array CGH.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Array-based comparative genomic hybridization and copy number variation in cancer research.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Strategies for the detection of copy number and other structural variants in the human genome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270583

Multiple-laboratory comparison of microarray platforms

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNBT.1852

Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNBT.1852

Widening the spectrum of human genetic variation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21552272

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NBT.1852

1 reference

304977

304977

1 reference

0 references

1 reference

1 reference