Assessing structural variation in a personal genome-towards a human reference diploid genome. (Q35607005)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

title

Assessing structural variation in a personal genome-towards a human reference diploid genome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

author

Claudia Gonzaga-Jauregui

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Caleb F Davis

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Simon White

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Feng Zhang

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Kim C Worley

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

29

James R Lupski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

31

Richard A Gibbs

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

25

Donna M Muzny

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

22

Pawel Stankiewicz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

23

David A Wheeler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

6

Deborah I Ritter

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

9

Mahmoud Dahdouli

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

30

Eric Boerwinkle

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

author name string

Adam C English

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

William J Salerno

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Oliver A Hampton

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Shruthi Ambreth

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Christine R Beck

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Singer Ma

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Andrew Carroll

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Narayanan Veeraraghavan

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Jeremy Bruestle

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Becky Drees

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Alex Hastie

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Ernest T Lam

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Pamela Mishra

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Min Wang

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Yi Han

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Jeffrey G Reid

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Jeffrey Rogers

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

Aniko Sabo

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

language of work or name

English

0 references

publication date

11 April 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

volume

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

page(s)

286

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

5 March 2020

copyright license

start time

11 April 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

TBX6 null variants and a common hypomorphic allele in congenital scoliosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

Following-up genome-wide association study signals: lessons learned from Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

PBHoney: identifying genomic variants via long-read discordance and interrupted mapping

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

The impact of chromosomal rearrangements on regulation of gene expression

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

Replicative mechanisms for CNV formation are error prone

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

Impacts of variation in the human genome on gene regulation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

An integrated map of genetic variation from 1,092 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=4490614

DELLY: structural variant discovery by integrated paired-end and split-read analysis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

Mechanisms for recurrent and complex human genomic rearrangements

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

Human genome sequencing in health and 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=4490614

A comprehensive map of mobile element insertion polymorphisms in humans

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

CREST maps somatic structural variation in cancer genomes with base-pair resolution.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

Mapping copy number variation by population-scale genome sequencing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

Enhanced structural variant and breakpoint detection using SVMerge by integration of multiple detection methods and local assembly

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

Deep resequencing reveals excess rare recent variants consistent with explosive population growth

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

Towards a comprehensive structural variation map of an individual 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=4490614

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

Structural variation in the human genome and its role in 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=4490614

Copy number variation in human health, disease, and evolution

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

BreakDancer: an algorithm for high-resolution mapping of genomic structural 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=4490614

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=4490614

A microhomology-mediated break-induced replication model for the origin of human 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=4490614

Population analysis of large copy number variants and hotspots of human genetic 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=4490614

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=4490614

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=4490614

The complete genome of an individual by massively parallel DNA sequencing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

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=4490614

Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

LUMPY: a probabilistic framework for structural variant discovery.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

Detection of clinically relevant copy number variants with whole-exome sequencing

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

A survey of tools for variant analysis of next-generation genome sequencing 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=4490614

CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

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=4490614

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490614

DNA sequencing of a cytogenetically normal acute myeloid leukaemia 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=4490614

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=4490614

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25886820

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S12864-015-1479-3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json

5 March 2020

PubMed publication ID

25886820

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25886820 AND SRC:MED&resulttype=core&format=json