GRIDSS: sensitive and specific genomic rearrangement detection using positional de Bruijn graph assembly. (Q47621663)

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8 April 2020

title

GRIDSS: sensitive and specific genomic rearrangement detection using positional de Bruijn graph assembly (English)

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8 April 2020

2

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8 April 2020

Alexander Dobrovic

6

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8 April 2020

Anthony T. Papenfuss

8

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8 April 2020

Daniel L Cameron

1

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8 April 2020

Jocelyn Sietsma

3

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8 April 2020

Terry Speed

7

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8 April 2020

author name string

Hongdo Do

4

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8 April 2020

Ramyar Molania

5

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8 April 2020

publication date

2 November 2017

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8 April 2020

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8 April 2020

volume

27

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8 April 2020

issue

12

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8 April 2020

page(s)

2050-2060

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Digital PCR of Genomic Rearrangements for Monitoring Circulating Tumour DNA.

8 April 2020

cites work

1 reference

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Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

INTEGRATE: gene fusion discovery using whole genome and transcriptome data

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

SpeedSeq: ultra-fast personal genome analysis and interpretation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

CONSERTING: integrating copy-number analysis with structural-variation detection

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

Population-based structural variation discovery with Hydra-Multi.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

The architecture and evolution of cancer neochromosomes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

Comprehensive variation discovery in single human genomes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

LUMPY: a probabilistic framework for structural variant discovery.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

Global optimization of somatic variant identification in cancer genomes with a global community challenge

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

Socrates: identification of genomic rearrangements in tumour genomes by re-aligning soft clipped reads.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

TIGRA: a targeted iterative graph routing assembler for breakpoint assembly

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

SOAPindel: efficient identification of indels from short paired reads

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

SEQuel: improving the accuracy of genome assemblies

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

De novo assembly and genotyping of variants using colored de Bruijn graphs

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

Mapping copy number variation by population-scale genome sequencing

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

Detection and characterization of novel sequence insertions using paired-end next-generation sequencing

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

Mapping and sequencing of structural variation from eight human genomes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741059

22 May 2018

Identifiers

DOI

10.1101/GR.222109.117

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097403%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

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8 April 2020

PubMed publication ID

29097403

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