Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements (Q64234563)

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scientific article published on 08 February 2019

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English	Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements	scientific article published on 08 February 2019

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Europe PubMed Central

PMC publication ID

6368290

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30735495%20AND%20SRC:MED&resulttype=core&format=json

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22 April 2020

title

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements (English)

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Europe PubMed Central

PMC publication ID

6368290

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22 April 2020

author

Maria Pettersson

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2

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6368290

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22 April 2020

Francesco Vezzi

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3

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6368290

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30735495%20AND%20SRC:MED&resulttype=core&format=json

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22 April 2020

Max Käller

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5

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6368290

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22 April 2020

Daniel Nilsson

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7

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PMC publication ID

6368290

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22 April 2020

Cláudia M B Carvalho

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9

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PMC publication ID

6368290

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30735495%20AND%20SRC:MED&resulttype=core&format=json

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22 April 2020

Anna Lindstrand

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10

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Europe PubMed Central

PMC publication ID

6368290

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30735495%20AND%20SRC:MED&resulttype=core&format=json

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22 April 2020

author name string

Jesper Eisfeldt

series ordinal

1

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Europe PubMed Central

PMC publication ID

6368290

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30735495%20AND%20SRC:MED&resulttype=core&format=json

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22 April 2020

Josephine Wincent

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4

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PMC publication ID

6368290

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30735495%20AND%20SRC:MED&resulttype=core&format=json

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22 April 2020

Joel Gruselius

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6

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Europe PubMed Central

PMC publication ID

6368290

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30735495%20AND%20SRC:MED&resulttype=core&format=json

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22 April 2020

Elisabeth Syk Lundberg

series ordinal

8

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Europe PubMed Central

PMC publication ID

6368290

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30735495%20AND%20SRC:MED&resulttype=core&format=json

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22 April 2020

language of work or name

English

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publication date

8 February 2019

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Europe PubMed Central

PMC publication ID

6368290

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30735495%20AND%20SRC:MED&resulttype=core&format=json

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22 April 2020

published in

PLOS Genetics

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Europe PubMed Central

PMC publication ID

6368290

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30735495%20AND%20SRC:MED&resulttype=core&format=json

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22 April 2020

volume

15

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Europe PubMed Central

PMC publication ID

6368290

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30735495%20AND%20SRC:MED&resulttype=core&format=json

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22 April 2020

issue

2

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Europe PubMed Central

PMC publication ID

6368290

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30735495%20AND%20SRC:MED&resulttype=core&format=json

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22 April 2020

page(s)

e1007858

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6368290

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22 April 2020

copyright license

Creative Commons Attribution 4.0 International

start time

8 February 2019

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April 2022 Public Data File from Crossref

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copyrighted

0 references

cites work

Complex chromosome rearrangements. Report of a new case and literature review

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

BLAT—The BLAST-Like Alignment Tool

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cytogenetic characterization of a constitutional, highly complex intrachromosomal rearrangement of chromosome 1, with 14 breakpoints and a 0.5 Mb submicroscopic deletion

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular and clinical characterization of patients with overlapping 10p deletions

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Massive genomic rearrangement acquired in a single catastrophic event during cancer development

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Integrative genomics viewer

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inverted low-copy repeats and genome instability--a genome-wide analysis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Criteria for inference of chromothripsis in cancer genomes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The future of sequencing: convergence of intelligent design and market Darwinism

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A global reference for human genetic variation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Extensive sequencing of seven human genomes to characterize benchmark reference materials

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifying structural variants using linked-read sequencing data

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tools for annotation and comparison of structural variation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accurate detection of complex structural variations using single-molecule sequencing

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30735495

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1371/JOURNAL.PGEN.1007858

1 reference

stated in

Europe PubMed Central

PMC publication ID

6368290

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30735495%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 April 2020

PMC publication ID

6368290

1 reference

stated in

Europe PubMed Central

PMC publication ID

6368290

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30735495%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 April 2020

PubMed publication ID

30735495

1 reference

stated in

Europe PubMed Central

PMC publication ID

6368290

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30735495%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 April 2020

 

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