Pitfalls in the use of DGV for CNV interpretation (Q57406247)

1

0 references

Françoise Charbonnier

2

0 references

Pascal Chambon

3

0 references

Jean-Baptiste Latouche

4

0 references

André Blavier

5

0 references

Thierry Frébourg

7

0 references

Jean-Michel Flaman

American Journal of Medical Genetics

8

0 references

language of work or name

English

0 references

publication date

9 September 2011

0 references

published in

0 references

volume

155

0 references

issue

10

0 references

page(s)

2593-2596

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

Systematic assessment of copy number variant detection via genome-wide SNP genotyping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

Detection of large-scale variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

The diploid genome sequence of an individual human

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

Common deletion polymorphisms in the human genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

Optimizing copy number variation analysis using genome-wide short sequence oligonucleotide arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

The fine-scale and complex architecture of human copy-number variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

Copy-number variation in control population cohorts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

Global variation in copy number in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

Challenges and standards in integrating surveys of structural variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

Large-scale copy number polymorphism in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

Segmental duplications and copy-number variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

The complete genome of an individual by massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

A comprehensive analysis of common copy-number variations in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195

Germ-line DNA copy number variation frequencies in a large North American population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34195