Mapping and phasing of structural variation in patient genomes using nanopore sequencing (Q44794525)

6 December 2017

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

1 reference

6 December 2017

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Daniela Giachino

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Jose Espejo Valle-Inclan

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Edwin Cuppen

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Michael E. Talkowski

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Tobias Marschall

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

author name string

Mircea Cretu Stancu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Markus J van Roosmalen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Ivo Renkens

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Marleen M Nieboer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Sjors Middelkamp

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Giulia Pregno

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Giorgia Mandrile

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Jerome Korzelius

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Ewart de Bruijn

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Jeroen de Ridder

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Wigard P Kloosterman

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

language of work or name

English

0 references

publication date

6 November 2017

1 reference

6 December 2017

Nature Communications

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

page(s)

1326

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

7 June 2020

copyright license

start time

6 November 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/s41467-017-01343-4

0 references

cites work

NanoSim: nanopore sequence read simulator based on statistical characterization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Discovery and genotyping of structural variation from long-read haploid genome sequence data.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

The Oxford Nanopore MinION: delivery of nanopore sequencing to the genomics community

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

A framework for the detection of de novo mutations in family-based sequencing data

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Modeling disease risk through analysis of physical interactions between genetic variants within chromatin regulatory circuitry

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Towards precision medicine

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

A hybrid approach for de novo human genome sequence assembly and phasing

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Minimap and miniasm: fast mapping and de novo assembly for noisy long sequences

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

The Dfam database of repetitive DNA families

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Oxford Nanopore sequencing, hybrid error correction, and de novo assembly of a eukaryotic genome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

A global reference for human genetic variation

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Assembly and diploid architecture of an individual human genome via single-molecule technologies

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Structural variation mutagenesis of the human genome: Impact on disease and evolution

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Sambamba: fast processing of NGS alignment formats.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

WhatsHap: Weighted Haplotype Assembly for Future-Generation Sequencing Reads.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Extending reference assembly models

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

A reference bacterial genome dataset generated on the MinION™ portable single-molecule nanopore sequencer.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Resolving the complexity of the human genome using single-molecule sequencing

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Mobster: accurate detection of mobile element insertions in next generation sequencing data

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Poretools: a toolkit for analyzing nanopore sequence data

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

LUMPY: a probabilistic framework for structural variant discovery.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Genome sequencing identifies major causes of severe intellectual disability

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

MATE-CLEVER: Mendelian-inheritance-aware discovery and genotyping of midsize and long indels

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Generation of human induced pluripotent stem cells from urine samples.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Unlocking Mendelian disease using exome sequencing

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Genome structural variation discovery and genotyping

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

The importance of phase information for human genomics

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Adaptive seeds tame genomic sequence comparison

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Control-free calling of copy number alterations in deep-sequencing data using GC-content normalization

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Clinical assessment incorporating a personal genome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Structural variation in the human genome and its role in disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Targeted capture and massively parallel sequencing of 12 human exomes

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

MUSCLE: multiple sequence alignment with high accuracy and high throughput

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

De novo assembly and phasing of a Korean human genome.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Three decades of nanopore sequencing.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673902

Nanopore sequencing and assembly of a human genome with ultra-long reads

15 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FS41467-017-01343-4

Taxonomic structure and functional association of foxtail millet root microbiome.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FS41467-017-01343-4

inferred from DOI database lookup

7 January 2021

based on heuristic

Nanopore sequencing and assembly of a human genome with ultra-long reads.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29109544

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/S41467-017-01343-4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

7 June 2020

ADS bibcode

2017NatCo...8.1326C

0 references

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29109544%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1 reference