Cargando…

Inferring mechanisms of copy number change from haplotype structures at the human DEFA1A3 locus

BACKGROUND: The determination of structural haplotypes at copy number variable regions can indicate the mechanisms responsible for changes in copy number, as well as explain the relationship between gene copy number and expression. However, obtaining spatial information at regions displaying extensi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Black, Holly A, Khan, Fayeza F, Tyson, Jess, Armour, John AL
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117965/ https://www.ncbi.nlm.nih.gov/pubmed/25048054 http://dx.doi.org/10.1186/1471-2164-15-614

Ejemplares similares

Accurate measurement of gene copy number for human alpha-defensin DEFA1A3
por: Khan, Fayeza F, et al.
Publicado: (2013)

Increased gene copy number of DEFA1/DEFA3 worsens sepsis by inducing endothelial pyroptosis
por: Chen, QiXing, et al.
Publicado: (2019)

Low-Copy Number Polymorphism in DEFA1/DEFA3 Is Associated with Susceptibility to Hospital-Acquired Infections in Critically Ill Patients
por: Zhao, Jialian, et al.
Publicado: (2018)

Correction to Supporting Information for Chen et al., Increased gene copy number of DEFA1/DEFA3 worsens sepsis by inducing endothelial pyroptosis
Publicado: (2022)

Correlation of DEFA1 Gene Copy Number Variation with Intestinal Involvement in Behcet's Disease
por: Ahn, Joong Kyong, et al.
Publicado: (2012)

Determination of haplotypes at structurally complex regions using emulsion haplotype fusion PCR
por: Tyson, Jess, et al.
Publicado: (2012)

Quadruplex MAPH: improvement of throughput in high-resolution copy number screening
por: Tyson, Jess, et al.
Publicado: (2009)

Increased Gene Copy Number of DEFA1A3 Is Associated With the Severity of Ulcerative Colitis
por: Kanmura, Shuji, et al.
Publicado: (2021)

HaplotypeCN: Copy Number Haplotype Inference with Hidden Markov Model and Localized Haplotype Clustering
por: Lin, Yen-Jen, et al.
Publicado: (2014)

Inference of chromosome-specific copy numbers using population haplotypes
por: Huang, Yao-Ting, et al.
Publicado: (2011)

Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability
por: Ballana, Ester, et al.
Publicado: (2007)

Inferring Haplotypes of Copy Number Variations From High-Throughput Data With Uncertainty
por: Kato, Mamoru, et al.
Publicado: (2011)

Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis
por: Hollox, Edward J, et al.
Publicado: (2005)

Inference of haplotypic phase and missing genotypes in polyploid organisms and variable copy number genomic regions
por: Su, Shu-Yi, et al.
Publicado: (2008)

PPBP and DEFA1/DEFA3 genes in hyperlipidaemia as feasible synergistic inflammatory biomarkers for coronary heart disease
por: Maneerat, Yaowapa, et al.
Publicado: (2017)

Inferring haplotypes at the NAT2 locus: the computational approach
por: Sabbagh, Audrey, et al.
Publicado: (2005)

HATCHet2: clone- and haplotype-specific copy number inference from bulk tumor sequencing data
por: Myers, Matthew A., et al.
Publicado: (2023)

Copy Number Variation at the APOL1 Locus
por: Ruchi, Rupam, et al.
Publicado: (2015)

MOCSphaser: a haplotype inference tool from a mixture of copy number variation and single nucleotide polymorphism data
por: Kato, Mamoru, et al.
Publicado: (2008)

Haplotyping and copy number estimation of the highly polymorphic human beta-defensin locus on 8p23 by 454 amplicon sequencing
por: Taudien, Stefan, et al.
Publicado: (2010)

A method for calling copy number polymorphism using haplotypes
por: Ho Jang, Gun, et al.
Publicado: (2013)

Haplotype Phasing and Inheritance of Copy Number Variants in Nuclear Families
por: Palta, Priit, et al.
Publicado: (2015)

Obesity, starch digestion and amylase: association between copy number variants at human salivary (AMY1) and pancreatic (AMY2) amylase genes
por: Carpenter, Danielle, et al.
Publicado: (2015)

CNVrd, a Read-Depth Algorithm for Assigning Copy-Number at the FCGR Locus: Population-Specific Tagging of Copy Number Variation at FCGR3B
por: Nguyen, Hoang tan, et al.
Publicado: (2013)

CNValidator: validating somatic copy-number inference
por: Smith, Lucian P, et al.
Publicado: (2019)

Haplotypes with Copy Number and Single Nucleotide Polymorphisms in CYP2A6 Locus Are Associated with Smoking Quantity in a Japanese Population
por: Kumasaka, Natsuhiko, et al.
Publicado: (2012)

Characterizing allele- and haplotype-specific copy numbers in single cells with CHISEL
por: Zaccaria, Simone, et al.
Publicado: (2021)

Diminished DEFA6 Expression in Paneth Cells Is Associated with Necrotizing Enterocolitis
por: Markasz, Laszlo, et al.
Publicado: (2018)

Inferring copy number and genotype in tumour exome data
por: Amarasinghe, Kaushalya C, et al.
Publicado: (2014)

Functional effects of CCL3L1 copy number
por: Carpenter, Danielle, et al.
Publicado: (2012)

Copy number, linkage disequilibrium and disease association in the FCGR locus
por: Niederer, Heather A., et al.
Publicado: (2010)

CCL3L1 copy number and susceptibility to malaria
por: Carpenter, Danielle, et al.
Publicado: (2012)

Refphase: Multi-sample phasing reveals haplotype-specific copy number heterogeneity
por: Watkins, Thomas B. K., et al.
Publicado: (2023)

Ribosomal DNA Copy Number Variation is Coupled with DNA Methylation Changes at the 45S rDNA Locus
por: Razzaq, Aleem, et al.
Publicado: (2023)

The inhibitory effect of human DEFA5 in growth of gastric cancer by targeting BMI1
por: Wu, Zhongwei, et al.
Publicado: (2021)

Microarray MAPH: accurate array-based detection of relative copy number in genomic DNA
por: Gibbons, Brian, et al.
Publicado: (2006)

A danger of low copy numbers for inferring incorrect cooperativity degree
por: Konkoli, Zoran
Publicado: (2010)

Inferring models of multiscale copy number evolution for single-tumor phylogenetics
por: Chowdhury, Salim Akhter, et al.
Publicado: (2015)

Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization
por: Yuan, Bo, et al.
Publicado: (2016)

Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing
por: Masset, Heleen, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_pssp91lcd7mvmp3mspfg8al7oo