(Q30810171)

5 November 2017

CANOES: detecting rare copy number variants from whole exome sequencing data (English)

1 reference

5 November 2017

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24771342%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Edwin Lin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24771342%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

8

Elizabeth Goldmuntz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24771342%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

6

Martina Brueckner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24771342%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

2

Jason Homsy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24771342%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

Daniel Backenroth

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24771342%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Laura R Murillo

3

1 reference

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1 June 2020

Richard Lifton

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24771342%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Wendy K Chung

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24771342%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Yufeng Shen

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24771342%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

language of work or name

English

0 references

publication date

25 April 2014

1 reference

5 November 2017

Nucleic Acids Research

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24771342%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24771342%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24771342%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

page(s)

e97

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24771342%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 3.0 Unported

1 June 2020

copyright license

start time

4 October 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Accounting for technical noise in single-cell RNA-seq experiments.

1 reference

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De novo mutations in histone-modifying genes in congenital heart disease.

21 June 2018

1 reference

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Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081054

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081054

The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders

21 June 2018

1 reference

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Modeling read counts for CNV detection in exome sequencing data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081054

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081054

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081054

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081054

Rare copy number variants observed in hereditary breast cancer cases disrupt genes in estrogen signaling and TP53 tumor suppression network

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081054

Copy number variation detection and genotyping from exome sequence data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081054

A genetic model for neurodevelopmental disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081054

A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081054

Evaluation of a droplet digital polymerase chain reaction format for DNA copy number quantification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081054

Performance comparison of exome DNA sequencing technologies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081054

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081054

Differential expression analysis for sequence count data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081054

Rare chromosomal deletions and duplications increase risk of schizophrenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081054

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081054

PLINK: a tool set for whole-genome association and population-based linkage analyses

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081054

Human copy number variation and complex genetic disease.

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FNAR%2FGKU345

21 January 2018

Identifiers

DOI

10.1093/NAR/GKU345

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24771342%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24771342%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24771342%20AND%20SRC:MED&resulttype=core&format=json