Cargando…

Identification of Copy Number Variants Defining Genomic Differences among Major Human Groups

BACKGROUND: Understanding the genetic contribution to phenotype variation of human groups is necessary to elucidate differences in disease predisposition and response to pharmaceutical treatments in different human populations. METHODOLOGY/PRINCIPAL FINDINGS: We have investigated the genome-wide pro...

Descripción completa

Detalles Bibliográficos
Autores principales:	Armengol, Lluís, Villatoro, Sergi, González, Juan R., Pantano, Lorena, García-Aragonés, Manel, Rabionet, Raquel, Cáceres, Mario, Estivill, Xavier
Formato:	Texto
Lenguaje:	English
Publicado:	Public Library of Science 2009
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2747275/ https://www.ncbi.nlm.nih.gov/pubmed/19789632 http://dx.doi.org/10.1371/journal.pone.0007230

Ejemplares similares

ProSeeK: A web server for MLPA probe design
por: Pantano, Lorena, et al.
Publicado: (2008)

Copy Number Variants and Common Disorders: Filling the Gaps and Exploring Complexity in Genome-Wide Association Studies
por: Estivill, Xavier, et al.
Publicado: (2007)

MLPAstats: An R GUI package for the integrated analysis of copy number alterations using MLPA data
por: Cáceres, Alejandro, et al.
Publicado: (2011)

Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA)
por: González, Juan R, et al.
Publicado: (2008)

Accounting for uncertainty when assessing association between copy number and disease: a latent class model
por: González, Juan R, et al.
Publicado: (2009)

Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders
por: Bassaganyas, Laia, et al.
Publicado: (2013)

A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein
por: Aigner, Johanna, et al.
Publicado: (2013)

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1
por: Brunet, Anna, et al.
Publicado: (2009)

PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data
por: Escaramís, Geòrgia, et al.
Publicado: (2013)

Correction: PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data
por: Escaramís, Geòrgia, et al.
Publicado: (2013)

Human genetics branches out in Barcelona
por: Rabionet, Raquel, et al.
Publicado: (2008)

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation
por: Madrigal, I, et al.
Publicado: (2007)

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders
por: Viñas-Jornet, Marina, et al.
Publicado: (2018)

SeqBuster, a bioinformatic tool for the processing and analysis of small RNAs datasets, reveals ubiquitous miRNA modifications in human embryonic cells
por: Pantano, Lorena, et al.
Publicado: (2010)

Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation
por: Susak, Hana, et al.
Publicado: (2021)

Major influence of repetitive elements on disease-associated copy number variants (CNVs)
por: Cardoso, Ana R., et al.
Publicado: (2016)

Dosage sensitivity is a major determinant of human copy number variant pathogenicity
por: Rice, Alan M., et al.
Publicado: (2017)

Distinct Signatures of Genomic Copy Number Variants Define Subgroups of Merkel Cell Carcinoma Tumors
por: Hill, Natasha T., et al.
Publicado: (2021)

Identification of copy number variants in horses
por: Doan, Ryan, et al.
Publicado: (2012)

Copy Number Variants in Alzheimer’s Disease
por: Cuccaro, Denis, et al.
Publicado: (2016)

Copy number variants in Ebstein anomaly
por: Giannakou, Andreas, et al.
Publicado: (2017)

Psychopathology in adults with copy number variants
por: Adams, Rachael L., et al.
Publicado: (2023)

Selection signatures in goats reveal copy number variants underlying breed-defining coat color phenotypes
por: Henkel, Jan, et al.
Publicado: (2019)

Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors
por: Martin-Trujillo, Alex, et al.
Publicado: (2017)

Bias of Selection on Human Copy-Number Variants
por: Nguyen, Duc-Quang, et al.
Publicado: (2006)

The Effect of Algorithms on Copy Number Variant Detection
por: Tsuang, Debby W., et al.
Publicado: (2010)

Endometriosis Is Associated with Rare Copy Number Variants
por: Chettier, Rakesh, et al.
Publicado: (2014)

Copy Number Variants in the Kallikrein Gene Cluster
por: Lindahl, Pernilla, et al.
Publicado: (2013)

Copy Number Variants in German Patients with Schizophrenia
por: Priebe, Lutz, et al.
Publicado: (2013)

Functional consequences of copy number variants in miscarriage
por: Wen, Jiadi, et al.
Publicado: (2015)

Schizophrenia copy number variants and associative learning
por: Clifton, N E, et al.
Publicado: (2017)

Editorial: Copy Number Variants in Neurological Disorder
por: Gentile, Giulia, et al.
Publicado: (2018)

Neurologic Features with Pathogenic Copy Number Variants
por: Coryell, Jason
Publicado: (2020)

Evolution of major histocompatibility complex gene copy number
por: Bentkowski, Piotr, et al.
Publicado: (2019)

Germline copy number variants are not associated with globally acquired copy number changes in familial breast tumours
por: Walker, Logan C., et al.
Publicado: (2012)

Mutant Kras copy number defines metabolic reprogramming and therapeutic susceptibilities
por: Kerr, Emma, et al.
Publicado: (2016)

Investigating the effects of copy number variants on reading and language performance
por: Gialluisi, Alessandro, et al.
Publicado: (2016)

Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism
por: Bosch, Nina, et al.
Publicado: (2009)

Correction: Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism
por: Bosch, Nina, et al.
Publicado: (2010)

Advantage of Using Allele-Specific Copy Numbers When Testing for Association in Regions with Common Copy Number Variants
por: Marenne, Gaëlle, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_693j9olat0nva784hma478ir79