(Q41853466)

13 October 2017

Automated design of paralogue ratio test assays for the accurate and rapid typing of copy number variation (English)

1 reference

13 October 2017

David McVey

6

0 references

Colin D Veal

Colin D Veal

1

0 references

Christopher J. Talbot

Christopher J Talbot

9

0 references

Edward J Hollox

Edward J Hollox

8

0 references

Anthony J Brookes

7

Anthony J Brookes

1 reference

13 October 2017

Hang Xu

2

1 reference

13 October 2017

Katherine Reekie

3

1 reference

13 October 2017

Robert Free

4

1 reference

13 October 2017

Robert J Hardwick

5

1 reference

13 October 2017

language of work or name

English

0 references

publication date

6 June 2013

1 reference

13 October 2017

7

1 reference

based on heuristic

inferred from page(s)

published in

Bioinformatics

1 reference

13 October 2017

29

1 reference

13 October 2017

16

1 reference

13 October 2017

1997-2003

1 reference

Creative Commons Attribution 3.0 Unported

13 October 2017

start time

2 October 2016

1 reference

April 2023 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

The genomic signature of dog domestication reveals adaptation to a starch-rich diet

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Statistical challenges associated with detecting copy number variations with next-generation sequencing.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Correlating multiallelic copy number polymorphisms with disease susceptibility

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Association of β-defensin copy number and psoriasis in three cohorts of European origin.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Genome wide association studies (GWAS) and copy number variation (CNV) studies of the major psychoses: what have we learnt?

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disorders

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Detection of copy number changes in DNA from formalin fixed paraffin embedded tissues using paralogue ratio tests.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Determination of beta-defensin genomic copy number in different populations: A comparison of three methods

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Mapping copy number variation by population-scale genome sequencing

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Diversity of human copy number variation and multicopy genes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Genomic copy number variation in disorders of cognitive development

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Copy number variation and transposable elements feature in recent, ongoing adaptation at the Cyp6g1 locus

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Towards a comprehensive structural variation map of an individual human genome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Evidence for both copy number and allelic (NA1/NA2) risk at the FCGR3B locus in systemic lupus erythematosus

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Comparison of multiplex ligation-dependent probe amplification and real-time PCR accuracy for gene copy number quantification using the beta-defensin locus

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Substrate specificity, inhibitors and regulation of human cytochrome P450 2D6 and implications in drug development

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Population analysis of large copy number variants and hotspots of human genetic disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Impact of whole genome amplification on analysis of copy number variants

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Psoriasis is associated with increased beta-defensin genomic copy number

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Hemoglobin variants and disease manifestations in severe falciparum malaria

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

BLAT—The BLAST-Like Alignment Tool

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Primer3 on the WWW for general users and for biologist programmers

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Tandem repeats finder: a program to analyze DNA sequences

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Selection for mefloquine resistance in Plasmodium falciparum is linked to amplification of the pfmdr1 gene and cross-resistance to halofantrine and quinine

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

An integrated approach for measuring copy number variation at the FCGR3 (CD16) locus

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Human β-defensin 3 (DEFB103) and its influence on Staphylococcus aureus nasal carriage

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722521

Multiplex Ligation-dependent Probe Amplification (MLPA®) for the detection of copy number variation in genomic sequences

2 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23742985

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BIOINFORMATICS/BTT330

1 reference

journals/bioinformatics/VealXRFHMBHT13

13 October 2017

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

13 October 2017

PubMed publication ID

23742985

1 reference