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

Bhooma Thiruvahindrapuram

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Stephen W. Scherer

Stephen W Scherer

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Aparna Prasad

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Ryan Mills

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Dalila Pinto

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Jeffrey R Macdonald

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Lars Feuk

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Anath C. Lionel

Anath C Lionel

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Matthew Hurles

Matthew E Hurles

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Patricia K. Donahoe

Patricia K Donahoe

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Nigel Carter

Nigel P Carter

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Elena Prigmore

Elena Prigmore

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author name string

Katayoon Darvishi

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Xinghua Shi

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Diana Rajan

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Diane Rigler

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Tom Fitzgerald

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Kristin Noonan

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Susan Gribble

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Richard S Smith

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Ji Hyeon Park

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Charles Lee

Mapping copy number variation by population-scale genome sequencing

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language of work or name

English

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publication date

8 May 2011

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512-20

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cites work

1 reference

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

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Towards a comprehensive structural variation map of an individual human genome

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17 March 2017

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17 March 2017

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

17 March 2017

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17 March 2017

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Strong association of de novo copy number mutations with sporadic schizophrenia

17 March 2017

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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

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Global variation in copy number in the human genome

17 March 2017

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Large-scale copy number polymorphism in the human genome

17 March 2017

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The International HapMap Project

17 March 2017

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Evaluation of gene expression measurements from commercial microarray platforms

17 March 2017

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Microarray results: how accurate are they?

17 March 2017

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

17 March 2017

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7 April 2017

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Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

9 May 2017

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

20 June 2018

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

20 June 2018

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

20 June 2018

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Comparing CNV detection methods for SNP arrays

20 June 2018

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Comparison of comparative genomic hybridization technologies across microarray platforms

20 June 2018

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

20 June 2018

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

20 June 2018

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

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

20 June 2018

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A comparison of DNA copy number profiling platforms

20 June 2018

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Array-based DNA diagnostics: let the revolution begin

20 June 2018

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Copy-number variation in control population cohorts

20 June 2018

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Challenges and standards in integrating surveys of structural variation

20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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

20 June 2018

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

20 June 2018

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

20 June 2018

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

20 June 2018

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

20 June 2018

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

20 June 2018

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Multiple-laboratory comparison of microarray platforms

20 June 2018

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

21 January 2018

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Widening the spectrum of human genetic variation

21 January 2018

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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

1 reference

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PubMed publication ID

21552272

1 reference