(Q35702888)

9 August 2017

title

Family-Based Benchmarking of Copy Number Variation Detection Software (English)

1 reference

9 August 2017

6

Michael Krawczak

1 reference

9 August 2017

3

Almut Nebel

1 reference

9 August 2017

5

Stefan Schreiber

1 reference

9 August 2017

2

Annegret Fischer

1 reference

9 August 2017

7

Michael Nothnagel

1 reference

9 August 2017

Marcel Elie Nutsua

1

1 reference

9 August 2017

Sylvia Hofmann

series ordinal

4

1 reference

9 August 2017

language of work or name

English

0 references

publication date

21 July 2015

1 reference

9 August 2017

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9 August 2017

volume

10

1 reference

9 August 2017

issue

7

1 reference

9 August 2017

page(s)

e0133465

1 reference

Creative Commons Attribution 4.0 International

9 August 2017

copyright license

start time

21 July 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Deep whole-genome sequencing of 100 southeast Asian Malays

27 July 2018

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

27 July 2018

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An exome sequencing pipeline for identifying and genotyping common CNVs associated with disease with application to psoriasis

27 July 2018

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The genetic variability and commonality of neurodevelopmental disease

27 July 2018

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Five years of GWAS discovery

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

Copy number variation across European populations

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

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

27 July 2018

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Mapping copy number variation by population-scale genome sequencing

27 July 2018

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Reference-unbiased copy number variant analysis using CGH microarrays

27 July 2018

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R-Gada: a fast and flexible pipeline for copy number analysis in association studies

27 July 2018

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

27 July 2018

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Towards a comprehensive structural variation map of an individual human genome

27 July 2018

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

27 July 2018

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

27 July 2018

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

27 July 2018

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

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

Finding the missing heritability of complex diseases

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

Comparing CNV detection methods for SNP arrays

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

A highly annotated whole-genome sequence of a Korean individual

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

Single nucleotide polymorphism arrays: a decade of biological, computational and technological advances

27 July 2018

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Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

27 July 2018

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A single-array preprocessing method for estimating full-resolution raw copy numbers from all Affymetrix genotyping arrays including GenomeWideSNP 5 & 6.

27 July 2018

1 reference

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The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

The diploid genome sequence of an Asian individual

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

Personal genomes: The case of the missing heritability

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

Large recurrent microdeletions associated with schizophrenia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

Mapping and sequencing of structural variation from eight human genomes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

The diploid genome sequence of an individual human

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

Methods and strategies for analyzing copy number variation using DNA microarrays

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

Strong association of de novo copy number mutations with autism

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

Global variation in copy number in the human genome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

A haplotype map of the human genome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

The International HapMap Project Web site

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

The International HapMap Project

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

Accuracy of CNV Detection from GWAS Data

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

VEGA: variational segmentation for copy number detection

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

Integrating common and rare genetic variation in diverse human populations

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

Accurate whole human genome sequencing using reversible terminator chemistry

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

A second generation human haplotype map of over 3.1 million SNPs

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

A genome-wide scalable SNP genotyping assay using microarray technology

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510559

10.1371/JOURNAL.PONE.0133465

25 September 2018

Identifiers

DOI

1 reference

9 August 2017

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1 reference

9 August 2017

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