(Q37330443)

19 August 2017

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants (English)

1 reference

19 August 2017

24

1 reference

19 August 2017

Cornelia M. van Duijn

20

Cornelia M van Duijn

0 references

André Uitterlinden

19

André G Uitterlinden

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Gert-Jan van Ommen

25

Gert-Jan B van Ommen

0 references

Tobias Marschall

Tobias Marschall

2

0 references

Joep de Ligt

Joep de Ligt

14

0 references

Patrick Deelen

Patrick Deelen

13

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Victor Guryev

Victor Guryev

30

0 references

Morris A Swertz

23

Morris A Swertz

1 reference

19 August 2017

27

Dorret I Boomsma

1 reference

19 August 2017

26

P Eline Slagboom

1 reference

19 August 2017

7

Abdel Abdellaoui

1 reference

19 August 2017

21

Evan E Eichler

1 reference

19 August 2017

Fereydoun Hormozdiari

17

Fereydoun Hormozdiari

1 reference

19 August 2017

12

Bradley P Coe

1 reference

19 August 2017

1

Jayne Y Hehir-Kwa

1 reference

19 August 2017

11

Ivo Renkens

1 reference

19 August 2017

Wigard P Kloosterman

3

1 reference

19 August 2017

Laurent C Francioli

4

1 reference

19 August 2017

Jasmijn A Baaijens

5

1 reference

19 August 2017

Louis J Dijkstra

6

1 reference

19 August 2017

Vyacheslav Koval

8

1 reference

19 August 2017

Djie Tjwan Thung

9

1 reference

19 August 2017

René Wardenaar

10

1 reference

19 August 2017

Eric-Wubbo Lameijer

15

1 reference

19 August 2017

Freerk van Dijk

16

1 reference

19 August 2017

Genome of the Netherlands Consortium

18

1 reference

19 August 2017

Paul I W de Bakker

22

1 reference

19 August 2017

Alexander Schönhuth

28

1 reference

19 August 2017

Kai Ye

29

1 reference

19 August 2017

language of work or name

English

0 references

publication date

6 October 2016

1 reference

19 August 2017

Nature Communications

1 reference

19 August 2017

7

1 reference

19 August 2017

12989

1 reference

Creative Commons Attribution 4.0 International

19 August 2017

start time

6 October 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/ncomms12989

0 references

cites work

An integrated map of structural variation in 2,504 human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

A global reference for 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=5059695

The UK10K project identifies rare variants in health and 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=5059695

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

Global diversity, population stratification, and selection of human 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=5059695

Genome-wide patterns and properties of de novo mutations 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=5059695

eQTL mapping identifies insertion- and deletion-specific eQTLs in multiple tissues

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

Characteristics of de novo structural changes 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=5059695

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

GINDEL: accurate genotype calling of insertions and deletions from low coverage population sequence reads

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

Resolving the complexity of the human genome using single-molecule sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

Whole-genome sequence variation, population structure and demographic history of the Dutch population

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

The Database of Genomic Variants: a curated collection of 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=5059695

MATE-CLEVER: Mendelian-inheritance-aware discovery and genotyping of midsize and long indels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

The Genome of the Netherlands: design, and project goals

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

SOAPdenovo2: an empirically improved memory-efficient short-read de novo assembler

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic 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=5059695

Gene copy-number polymorphism caused by retrotransposition 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=5059695

Deep whole-genome sequencing of 100 southeast Asian Malays

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel 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=5059695

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

Systematic localization of common disease-associated variation in regulatory DNA

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

A linear complexity phasing method for thousands of genomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

Integrating common and rare genetic variation in diverse human populations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

Genotype imputation for 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=5059695

Origins and functional impact of 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=5059695

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

The functional impact of structural variation 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=5059695

FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

Relative impact of nucleotide and copy number variation on gene expression phenotypes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

A comparison of phasing algorithms for trios and unrelated individuals

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

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=5059695

The International HapMap Project

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

dbSNP: the NCBI database of 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=5059695

Population-specific genotype imputations using minimac or IMPUTE2.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'.

1 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059695

2 September 2018

Identifiers

DOI

10.1038/NCOMMS12989

1 reference

19 August 2017

0 references

1 reference

19 August 2017

1 reference