(Q37381957)

20 August 2017

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

1 reference

20 August 2017

1 reference

3

1 reference

20 August 2017

5

Deborah A Nickerson

1 reference

20 August 2017

4

Evan E Eichler

1 reference

20 August 2017

2

Troy Zerr

1 reference

20 August 2017

Gregory M Cooper

1

1 reference

PMCID

2759751

20 August 2017

language of work or name

English

0 references

publication date

7 September 2008

1 reference

20 August 2017

1 reference

20 August 2017

40

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20 August 2017

1199-1203

1 reference

20 August 2017

10

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.236

20 August 2017

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cites work

Mapping and sequencing of structural variation from eight human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

Diet and the evolution of human amylase gene copy number variation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

Mutational and selective effects on copy-number variants in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

Completing the map of human genetic variation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

Unsupervised segmentation of continuous genomic data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

Global variation in copy number in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

A haplotype map of the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

Segmental duplications and copy-number variation in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

Fine-scale structural variation of the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

Large-scale copy number polymorphism in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

alpha-Synuclein locus triplication causes Parkinson's disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

Molecular mechanisms for constitutional chromosomal rearrangements in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

High-throughput genotyping of intermediate-size structural variation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

Common deletion polymorphisms in the human genome.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2759751

A worldwide survey of haplotype variation and linkage disequilibrium in the human genome

2 September 2018

1 reference

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

Estimating the Dimension of a Model

21 January 2018

1 reference

Shotgun sequence assembly and recent segmental duplications within the human genome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18776910

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/18776910

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Chemical characterization of element 112

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.236

1 reference

20 August 2017

1 reference

20 August 2017

1 reference

PMCID

2759751