Personalized copy number and segmental duplication maps using next-generation sequencing. (Q33498358)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19718026%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

title

Personalized copy number and segmental duplication maps using next-generation sequencing (English)

1 reference

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6 February 2020

1

1 reference

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6 February 2020

Jeffrey M. Kidd

2

1 reference

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6 February 2020

Tomas Marques-Bonet

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19718026%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Francesca Antonacci

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19718026%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Jacob O Kitzman

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19718026%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

13

Evan E Eichler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19718026%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

11

S Cenk Sahinalp

1 reference

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6 February 2020

Fereydoun Hormozdiari

6

object named as

Fereydoun Hormozdiari

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19718026%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

9

Maika Malig

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19718026%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

4

Gozde Aksay

1 reference

6 February 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19718026%20AND%20SRC:MED&resulttype=core&format=json

Carl Baker

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19718026%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Onur Mutlu

10

1 reference

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6 February 2020

Richard A Gibbs

12

1 reference

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6 February 2020

language of work or name

English

0 references

publication date

30 August 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19718026%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19718026%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

volume

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19718026%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

page(s)

1061-1067

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19718026%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19718026%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

6 February 2020

massive parallel sequencing

1 reference

based on heuristic

inferred from title

exact match

https://scigraph.springernature.com/pub.10.1038/ng.437

0 references

cites work

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1 reference

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High-resolution mapping of copy-number alterations with massively parallel sequencing

21 June 2018

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The diploid genome sequence of an Asian individual

21 June 2018

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Accurate whole human genome sequencing using reversible terminator chemistry

21 June 2018

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

21 June 2018

1 reference

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

21 June 2018

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Mapping short DNA sequencing reads and calling variants using mapping quality scores

21 June 2018

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Mapping and sequencing of structural variation from eight human genomes

21 June 2018

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Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

21 June 2018

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The complete genome of an individual by massively parallel DNA sequencing

21 June 2018

1 reference

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Psoriasis is associated with increased beta-defensin genomic copy number

21 June 2018

1 reference

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

21 June 2018

1 reference

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875196

Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European A

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875196

NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

21 June 2018

1 reference

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Global variation in copy number in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875196

A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875196

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875196

Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875196

WindowMasker: window-based masker for sequenced genomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875196

Segmental duplications and copy-number variation in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875196

Fine-scale structural variation of the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875196

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875196

Detection of large-scale variation in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875196

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21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875196

Large-scale variation among human and great ape genomes determined by array comparative genomic hybridization

21 June 2018

1 reference

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Recent segmental duplications in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875196

Segmental duplications: organization and impact within the current human genome project assembly

21 June 2018

1 reference

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21 June 2018

1 reference

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High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875196

Basic local alignment search tool

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875196

Rapid whole-genome mutational profiling using next-generation sequencing technologies

21 June 2018

1 reference

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Whole-genome sequencing and variant discovery in C. elegans.

31 October 2018

1 reference

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Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875196

Molecular definition of the extreme size polymorphism in apolipoprotein(a).

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875196

Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19718026

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Shotgun sequence assembly and recent segmental duplications within the human genome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19718026

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.437

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19718026%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19718026%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference