(Q46023021)

http://europepmc.org/abstract/PMC/5741540

19 February 2018

title

Long-read genome sequencing identifies causal structural variation in a Mendelian disease. (English)

1 reference

http://europepmc.org/abstract/PMC/5741540

19 February 2018

main subject

whole genome sequencing

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Megan E Grove

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Stephen Montgomery

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

Jason D Merker

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Aaron M Wenger

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Tam Sneddon

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Zachary Zappala

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Daryl Waggott

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Sowmi Utiramerur

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Yanli Hou

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Kevin S Smith

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Matthew Wheeler

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Jillian G Buchan

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Christine C Lambert

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Kevin S Eng

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Luke Hickey

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Jonas Korlach

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Euan A Ashley

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

James Ford

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

language of work or name

English

0 references

publication date

22 June 2017

1 reference

http://europepmc.org/abstract/PMC/5741540

19 February 2018

published in

Genetics in Medicine

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

page(s)

159-163

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/gim.2017.86

1 June 2020

exact match

0 references

cites work

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

1 reference

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24 May 2018

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CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing.

24 May 2018

1 reference

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Medical implications of technical accuracy in genome sequencing

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741540

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

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741540

Genetic variation and the de novo assembly of human genomes

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741540

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

24 May 2018

1 reference

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

24 May 2018

1 reference

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From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741540

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

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741540

LUMPY: a probabilistic framework for structural variant discovery.

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741540

Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741540

Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741540

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

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741540

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

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741540

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

24 May 2018

1 reference

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De novo assembly and phasing of a Korean human genome.

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741540

Heterogeneity of skin manifestations in patients with Carney complex.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5741540

15 August 2018

Identifiers

DOI

10.1038/GIM.2017.86

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28640241%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

PubMed publication ID

28640241

1 reference