相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Frequency of CCR5 genotypes in HIV-infected patients in Roraima, Brazil
Andre de Lima Guerra Corado et al.
BRAZILIAN JOURNAL OF INFECTIOUS DISEASES (2016)
Human inversions and their functional consequences
Marta Puig et al.
BRIEFINGS IN FUNCTIONAL GENOMICS (2015)
Complex and multi-allelic copy number variation in human disease
Christina L. Usher et al.
BRIEFINGS IN FUNCTIONAL GENOMICS (2015)
Large multiallelic copy number variations in humans
Robert E. Handsaker et al.
NATURE GENETICS (2015)
Complete Haplotype Sequence of the Human Immunoglobulin Heavy-Chain Variable, Diversity, and Joining Genes and Characterization of Allelic and Copy-Number Variation
Corey T. Watson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Interaction of MC1R and PMEL alleles on solid coat colors in Highland cattle
Sheila M. Schmutz et al.
ANIMAL GENETICS (2013)
Impact of constitutional copy number variants on biological pathway evolution
Maria Poptsova et al.
BMC EVOLUTIONARY BIOLOGY (2013)
Modeling Recent Human Evolution in Mice by Expression of a Selected EDAR Variant
Yana G. Kamberov et al.
CELL (2013)
Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division
Alexej Abyzov et al.
GENOME RESEARCH (2013)
Evolution and diversity of copy number variation in the great ape lineage
Peter H. Sudmant et al.
GENOME RESEARCH (2013)
Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer
Shuhei Abe et al.
JOURNAL OF HUMAN GENETICS (2013)
KIR2DL4 Copy Number Variation Is Associated with CD4+ T-Cell Depletion and Function of Cytokine-Producing NK Cell Subsets in SIV-Infected Mamu-A*01-Negative Rhesus Macaques
Ina Hellmann et al.
JOURNAL OF VIROLOGY (2013)
The genomic signature of dog domestication reveals adaptation to a starch-rich diet
Erik Axelsson et al.
NATURE (2013)
Phenotypic impact of genomic structural variation: insights from and for human disease
Joachim Weischenfeldt et al.
NATURE REVIEWS GENETICS (2013)
Primate genome architecture influences structural variation mechanisms and functional consequences
Omer Gokcumen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Gene Copy-Number Polymorphism Caused by Retrotransposition in Humans
Daniel R. Schrider et al.
PLOS GENETICS (2013)
Genome-Wide Analysis Reveals Selection for Important Traits in Domestic Horse Breeds
Jessica L. Petersen et al.
PLOS GENETICS (2013)
Association between a polymorphism in the IGF2 gene and finishing weight in a commercial rabbit population
L. Fontanesi et al.
ANIMAL GENETICS (2012)
Insights into the regulation of human CNV-miRNAs from the view of their target genes
Xudong Wu et al.
BMC GENOMICS (2012)
A genome-wide detection of copy number variations using SNP genotyping arrays in swine
Jiying Wang et al.
BMC GENOMICS (2012)
A comprehensive survey of copy number variation in 18 diverse pig populations and identification of candidate copy number variable genes associated with complex traits
Congying Chen et al.
BMC GENOMICS (2012)
Copy number variation of the APC gene is associated with regulation of bone mineral density
Shelby Chew et al.
BONE (2012)
Genomic regions showing copy number variations associate with resistance or susceptibility to gastrointestinal nematodes in Angus cattle
Yali Hou et al.
FUNCTIONAL & INTEGRATIVE GENOMICS (2012)
Exploring polymorphisms and potential application roles of the bovine Nfix gene in breeding
Yang Zhou et al.
GENOME (2012)
Identification of copy number variants in horses
Ryan Doan et al.
GENOME RESEARCH (2012)
Copy number variation of individual cattle genomes using next-generation sequencing
Derek M. Bickhart et al.
GENOME RESEARCH (2012)
Exploring copy number variation in the rabbit (Oryctolagus cuniculus) genome by array comparative genome hybridization
L. Fontanesi et al.
GENOMICS (2012)
CCL3L gene copy number and survival in an HIV-1 infected Zimbabwean population
Margit Horup Larsen et al.
INFECTION GENETICS AND EVOLUTION (2012)
CCL3L1 copy number and susceptibility to malaria
Danielle Carpenter et al.
INFECTION GENETICS AND EVOLUTION (2012)
Effects of β-lactoglobulin, stearoyl-coenzyme A desaturase 1, and sterol regulatory element binding protein gene allelic variants on milk production, composition, acidity, and coagulation properties of Brown Swiss cows
A. Cecchinato et al.
JOURNAL OF DAIRY SCIENCE (2012)
Intragenic Copy Number Variation within Filaggrin Contributes to the Risk of Atopic Dermatitis with a Dose-Dependent Effect
Sara J. Brown et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2012)
Serial translocation by means of circular intermediates underlies colour sidedness in cattle
Keith Durkin et al.
NATURE (2012)
Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice
Lisa S. Andersson et al.
NATURE (2012)
Structural haplotypes and recent evolution of the human 17q21.31 region
Linda M. Boettger et al.
NATURE GENETICS (2012)
The yak genome and adaptation to life at high altitude
Qiang Qiu et al.
NATURE GENETICS (2012)
LIPH Expression in Skin and Hair Follicles of Normal Coat and Rex Rabbits
Mathieu Diribarne et al.
PLOS ONE (2012)
Strong signatures of selection in the domestic pig genome
Carl-Johan Rubin et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Higher DEFB4 genomic copy number in SLE and ANCA-associated small vasculitis
Xu-Jie Zhou et al.
RHEUMATOLOGY (2012)
Testis-Specific Protein Y-Encoded Copy Number Is Correlated to Its Expression and the Field Fertility of Canadian Holstein Bulls
C. K. Hamilton et al.
SEXUAL DEVELOPMENT (2012)
Exploring the role of copy number variants in human adaptation
Rebecca C. Iskow et al.
TRENDS IN GENETICS (2012)
Altered expression of melanocortin-1 receptor (MC1R) in a yellow-coloured wild raccoon dog (Nyctereutes procyonoides)
Jae-Ik Han et al.
VETERINARY DERMATOLOGY (2012)
Mutations in MITF and PAX3 Cause Splashed White and Other White Spotting Phenotypes in Horses
Regula Hauswirth et al.
PLOS GENETICS (2012)
The fine-scale architecture of structural variants in 17 mouse genomes
Binnaz Yalcin et al.
GENOME BIOLOGY (2012)
Novel origins of copy number variation in the dog genome
Jonas Berglund et al.
GENOME BIOLOGY (2012)
Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic Deletions
Andrew Dauber et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Coat colours in the Massese sheep breed are associated with mutations in the agouti signalling protein (ASIP) and melanocortin 1 receptor (MC1R) genes
L. Fontanesi et al.
ANIMAL (2011)
Five novel KIT mutations in horses with white coat colour phenotypes
B. Haase et al.
ANIMAL GENETICS (2011)
Genomic characteristics of cattle copy number variations
Yali Hou et al.
BMC GENOMICS (2011)
A high-resolution integrated map of copy number polymorphisms within and between breeds of the modern domesticated dog
Thomas J. Nicholas et al.
BMC GENOMICS (2011)
Copy number variation modifies expression time courses
Evelyne Chaignat et al.
GENOME RESEARCH (2011)
Relating CNVs to transcriptome data at fine resolution: Assessment of the effect of variant size, type, and overlap with functional regions
Andreas Schlattl et al.
GENOME RESEARCH (2011)
A 6-bp deletion in the TYRP1 gene causes the brown colouration phenotype in Chinese indigenous pigs
J. Ren et al.
HEREDITY (2011)
A Worldwide Analysis of Beta-Defensin Copy Number Variation Suggests Recent Selection of a High-Expressing DEFB103 Gene Copy in East Asia
Robert J. Hardwick et al.
HUMAN MUTATION (2011)
Three novel mutations in ASIP associated with black fibre in alpacas (Vicugna pacos)
N. L. Feeley et al.
JOURNAL OF AGRICULTURAL SCIENCE (2011)
A SINE Insertion Causes the Black-and-Tan and Saddle Tan Phenotypes in Domestic Dogs
Dayna L. Dreger et al.
JOURNAL OF HEREDITY (2011)
Increased Number of MicroRNA Target Sites in Genes Encoded in CNV Regions. Evidence for an Evolutionary Genomic Interaction
Kyriakos Felekkis et al.
MOLECULAR BIOLOGY AND EVOLUTION (2011)
Sequence-based characterization of structural variation in the mouse genome
Binnaz Yalcin et al.
NATURE (2011)
Mapping copy number variation by population-scale genome sequencing
Ryan E. Mills et al.
NATURE (2011)
A Deletion in Exon 9 of the LIPH Gene Is Responsible for the Rex Hair Coat Phenotype in Rabbits (Oryctolagus cuniculus)
Mathieu Diribarne et al.
PLOS ONE (2011)
Copy number variants in pharmacogenetic genes
Yijing He et al.
TRENDS IN MOLECULAR MEDICINE (2011)
Fine Mapping of a QTL for Fertility on BTA7 and Its Association With a CNV in the Israeli Holsteins
Giora Glick et al.
G3-GENES GENOMES GENETICS (2011)
Identification of a Genomic Reservoir for New TRIM Genes in Primate Genomes
Kyudong Han et al.
PLOS GENETICS (2011)
The impact of CCL3L1 copy number in an HIV-1-infected white population
Erika Y. Lee et al.
AIDS (2010)
Genetic heterogeneity and selection signature at the KIT gene in pigs showing different coat colours and patterns
L. Fontanesi et al.
ANIMAL GENETICS (2010)
De novo mutation of KIT discovered as a result of a non-hereditary white coat colour pattern
H. Holl et al.
ANIMAL GENETICS (2010)
Phylogenetic Insights on Adaptive Radiation
Richard E. Glor
ANNUAL REVIEW OF ECOLOGY, EVOLUTION, AND SYSTEMATICS, VOL 41 (2010)
A composite six bp in-frame deletion in the melanocortin 1 receptor (MC1R) gene is associated with the Japanese brindling coat colour in rabbits (Oryctolagus cuniculus)
Luca Fontanesi et al.
BMC GENETICS (2010)
Analysis of copy loss and gain variations in Holstein cattle autosomes using BeadChip SNPs
Eyal Seroussi et al.
BMC GENOMICS (2010)
An initial comparative map of copy number variations in the goat (Capra hircus) genome
Luca Fontanesi et al.
BMC GENOMICS (2010)
Analysis of copy number variations among diverse cattle breeds
George E. Liu et al.
GENOME RESEARCH (2010)
Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome
Aaron R. Quinlan et al.
GENOME RESEARCH (2010)
Characterization of the rabbit agouti signaling protein (ASIP) gene: Transcripts and phylogenetic analyses and identification of the causative mutation of the nonagouti black coat colour
Luca Fontanesi et al.
GENOMICS (2010)
The genetic basis of recessive self-colour pattern in a wild sheep population
J. Gratten et al.
HEREDITY (2010)
Ecological opportunity and the origin of adaptive radiations
J. B. Yoder et al.
JOURNAL OF EVOLUTIONARY BIOLOGY (2010)
Origins and functional impact of copy number variation in the human genome
Donald F. Conrad et al.
NATURE (2010)
A map of human genome variation from population-scale sequencing
David Altshuler et al.
NATURE (2010)
CCL3L1 Copy Number Variation and Susceptibility to HIV-1 Infection: A Meta-Analysis
Sijie Liu et al.
PLOS ONE (2010)
Diversity of Human Copy Number Variation and Multicopy Genes
Peter H. Sudmant et al.
SCIENCE (2010)
Systematic Inference of Copy-Number Genotypes from Personal Genome Sequencing Data Reveals Extensive Olfactory Receptor Gene Content Diversity
Sebastian M. Waszak et al.
PLOS COMPUTATIONAL BIOLOGY (2010)
Impact of novel TRIM5α variants, Gly110Arg and G176del, on the anti-HIV-1 activity and the susceptibility to HIV-1 infection
Toshiaki Nakajima et al.
AIDS (2009)
Copy Number Variation and Missense Mutations of the Agouti Signaling Protein (ASIP) Gene in Goat Breeds with Different Coat Colors
L. Fontanesi et al.
CYTOGENETIC AND GENOME RESEARCH (2009)
The genomic architecture of segmental duplications and associated copy number variants in dogs
Thomas J. Nicholas et al.
GENOME RESEARCH (2009)
Copy number variation influences gene expression and metabolic traits in mice
Luz D. Orozco et al.
HUMAN MOLECULAR GENETICS (2009)
The Genetic Basis of Melanism in the Gray Squirrel (Sciurus carolinensis)
Helen McRobie et al.
JOURNAL OF HEREDITY (2009)
Adaptation and diversification on islands
Jonathan B. Losos et al.
NATURE (2009)
The impact of copy number variation on local gene expression in mouse hematopoietic stem and progenitor cells
Patrick Cahan et al.
NATURE GENETICS (2009)
Segmental copy number variation shapes tissue transcriptomes
Charlotte N. Henrichsen et al.
NATURE GENETICS (2009)
Melanism in Peromyscus Is Caused by Independent Mutations in Agouti
Evan P. Kingsley et al.
PLOS ONE (2009)
Allelic recombination between distinct genomic locations generates copy number diversity in human β-defensins
Suhaili Abu Bakar et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Coat Variation in the Domestic Dog Is Governed by Variants in Three Genes
Edouard Cadieu et al.
SCIENCE (2009)
Copy Number Variation of CCL3-like Genes Affects Rate of Progression to Simian-AIDS in Rhesus Macaques (Macaca mulatta)
Jeremiah D. Degenhardt et al.
PLOS GENETICS (2009)
Genome-wide Copy-Number-Variation Study Identified a Susceptibility Gene, UGT2B17, for Osteoporosis
Tie-Lin Yang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Extensive copy-number variation of the human olfactory receptor gene family
Janet M. Young et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Coat darkness is associated with social dominance and mating behaviour in a mountain sheep hybrid lineage
John Loehr et al.
ANIMAL BEHAVIOUR (2008)
Characterization of a novel microdeletion polymorphism on BTA5 in cattle
G. E. Liu et al.
ANIMAL GENETICS (2008)
A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sheep
Belinda J. Norris et al.
GENOME RESEARCH (2008)
Distribution and functional impact of DNA copy number variation in the rat
Victor Guryev et al.
NATURE GENETICS (2008)
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
Mark I. McCarthy et al.
NATURE REVIEWS GENETICS (2008)
Genomic drift and copy number variation of sensory receptor genes in humans
Masafumi Nozawa et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Genotype of bovine sterol regulatory element binding protein-1 (SREBP-1) is associated with fatty acid composition in Japanese Black cattle
Shogo Hoashi et al.
MAMMALIAN GENOME (2007)
A β-defensin mutation causes black coat color in domestic dogs
Sophie I. Candille et al.
SCIENCE (2007)
Diet and the evolution of human amylase gene copy number variation
George H. Perry et al.
NATURE GENETICS (2007)
The diploid genome sequence of an individual human
Samuel Levy et al.
PLOS BIOLOGY (2007)
Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation
Justin Graf et al.
HUMAN MUTATION (2007)
Hemoglobin variants and disease manifestations in severe falciparum malaria
Juergen May et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2007)
A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs
Dana S. Mosher et al.
PLOS GENETICS (2007)
Relative impact of nucleotide and copy number variation on gene expression phenotypes
Barbara E. Stranger et al.
SCIENCE (2007)
A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses
S. A. Brooks et al.
CYTOGENETIC AND GENOME RESEARCH (2007)
Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): Low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans
Yan Yang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Global variation in copy number in the human genome
Richard Redon et al.
NATURE (2006)
Mutations in the melanocortin 1 receptor (MC1R) gene are associated with coat colours in the domestic rabbit (Oryctolagus cuniculus)
L. Fontanesi et al.
ANIMAL GENETICS (2006)
A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep
Alex Clop et al.
NATURE GENETICS (2006)
Large differences in testosterone excretion in Korean and Swedish men are strongly associated with a UDP-glucuronosyl transferase 2B17 polymorphism
J Jakobsson et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)
CCR5 deficiency increases risk of symptomatic West Nile virus infection
WG Glass et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2006)
Common deletion polymorphisms in the human genome
SA McCarroll et al.
NATURE GENETICS (2006)
Genetic variations in the receptor-ligand pair CCR5 and CCL3L1 are important determinants of susceptibility to Kawasaki disease
JC Burns et al.
JOURNAL OF INFECTIOUS DISEASES (2005)
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
E Gonzalez et al.
SCIENCE (2005)
A common inversion under selection in Europeans
H Stefansson et al.
NATURE GENETICS (2005)
Detection of large-scale variation in the human genome
AJ Iafrate et al.
NATURE GENETICS (2004)
Large-scale copy number polymorphism in the human genome
J Sebat et al.
SCIENCE (2004)
Brief report -: Myostatin mutation associated with gross muscle hypertrophy in a child
M Schuelke et al.
NEW ENGLAND JOURNAL OF MEDICINE (2004)
Extensive normal copy number variation of a β-defensin antimicrobial-gene cluster
EJ Hollox et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their association to coat color phenotypes in horses (Equus caballus)
S Rieder et al.
MAMMALIAN GENOME (2001)
分享论文
