Identifying structural variants using linked-read sequencing data (Q47308909)

13 January 2018

http://europepmc.org/abstract/MED/29112732

title

Identifying structural variants using linked-read sequencing data (English)

1 reference

13 January 2018

http://europepmc.org/abstract/MED/29112732

author

Benjamin J. Raphael

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29112732%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

author name string

Rebecca Elyanow

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29112732%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Hsin-Ta Wu

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29112732%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

language of work or name

English

0 references

publication date

3 November 2017

1 reference

13 January 2018

http://europepmc.org/abstract/MED/29112732

number of pages

8

1 reference

based on heuristic

inferred from page(s)

published in

Bioinformatics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29112732%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

volume

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29112732%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29112732%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

page(s)

353-360

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29112732%20AND%20SRC:MED&resulttype=core&format=json

SvABA: genome-wide detection of structural variants and indels by local assembly.

7 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Genome-wide reconstruction of complex structural variants using read clouds.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Direct determination of diploid genome sequences

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

novoBreak: local assembly for breakpoint detection in cancer genomes

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Haplotyping germline and cancer genomes with high-throughput linked-read sequencing

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

SV-Bay: structural variant detection in cancer genomes using a Bayesian approach with correction for GC-content and read mappability

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Characterization of the novel tumor-suppressor gene CCDC67 in papillary thyroid carcinoma

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays.

29 September 2018

1 reference

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Read clouds uncover variation in complex regions of the human genome

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Detection of Genomic Structural Variants from Next-Generation Sequencing Data

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Characterization of structural variants with single molecule and hybrid sequencing approaches

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

LUMPY: a probabilistic framework for structural variant discovery.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

CHES1/FOXN3 regulates cell proliferation by repressing PIM2 and protein biosynthesis

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Punctuated evolution of prostate cancer genomes

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Phenotypic impact of genomic structural variation: insights from and for human disease

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

An integrative probabilistic model for identification of structural variation in sequencing data

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Distinct patterns of somatic alterations in a lymphoblastoid and a tumor genome derived from the same individual

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Genome structural variation discovery and genotyping

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Next-generation VariationHunter: combinatorial algorithms for transposon insertion discovery

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Towards a comprehensive structural variation map of an individual human genome

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Complex landscapes of somatic rearrangement in human breast cancer genomes

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

A geometric approach for classification and comparison of structural variants

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Functional classification analysis of somatically mutated genes in human breast and colorectal cancers

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Strong association of de novo copy number mutations with autism

29 September 2018

1 reference

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MYEOV, a gene at 11q13, is coamplified with CCND1, but epigenetically inactivated in a subset of esophageal squamous cell carcinomas

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5860216

Structural variation analysis with strobe reads

29 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29112732

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BIOINFORMATICS/BTX712

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29112732%20AND%20SRC:MED&resulttype=core&format=json

journals/bioinformatics/ElyanowWR18

7 June 2020

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29112732%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1 reference