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。Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories
Ron Hochstenbach et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2021)
Distinguishing between carrier and noncarrier embryos with the use of long-read sequencing in preimplantation genetic testing for reciprocal translocations
Judy F. C. Chow et al.
GENOMICS (2020)
Structural variation in the sequencing era
Steve S. Ho et al.
NATURE REVIEWS GENETICS (2020)
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization
Kevin Uguen et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2020)
Location of Balanced Chromosome-Translocation Breakpoints by Long-Read Sequencing on the Oxford Nanopore Platform
Liang Hu et al.
FRONTIERS IN GENETICS (2020)
Routine Karyotyping Reveals Frequent Mosaic Reciprocal Chromosome Translocations in Swine: Prevalence, Pedigree, and Litter Size
Samira Rezaei et al.
SCIENTIFIC REPORTS (2020)
An improved pig reference genome sequence to enable pig genetics and genomics research
Amanda Warr et al.
GIGASCIENCE (2020)
Using short read sequencing to characterise balanced reciprocal translocations in pigs
Aniek C. Bouwman et al.
BMC GENOMICS (2020)
Chromosomal imbalance in pigs showing a syndromic form of cleft palate
Alexander Grahofer et al.
BMC GENOMICS (2019)
Non-Random Distribution of Reciprocal Translocation Breakpoints in the Pig Genome
Brendan Donaldson et al.
GENES (2019)
Prevalence of chromosomal aberrations in breeding pigs in Spain
Raul Sanchez-Sanchez et al.
REPRODUCTION IN DOMESTIC ANIMALS (2019)
European guidelines for constitutional cytogenomic analysis
Marisa Silva et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2019)
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease
Andrew M. Gross et al.
GENETICS IN MEDICINE (2019)
Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes
Tiia Maria Luukkonen et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2018)
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data
Brett Trost et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Long reads: their purpose and place
Martin O. Pollard et al.
HUMAN MOLECULAR GENETICS (2018)
Comprehensive variation discovery and recovery of missing sequence in the pig genome using multiple de novo assemblies
Mingzhou Li et al.
GENOME RESEARCH (2017)
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
Nuria C. Bramswig et al.
HUMAN GENETICS (2017)
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Claire Redin et al.
NATURE GENETICS (2017)
Azoospermia and Testicular Hypoplasia in a Boar Carrier of a Novel Y-Autosome Translocation
Daniel A. F. Villagomez et al.
SEXUAL DEVELOPMENT (2017)
Validation of copy number variation analysis for next-generation sequencing diagnostics
Jamie M. Ellingford et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gs Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)
Giedre Grigelioniene et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2017)
Genome-Wide Association Study of Piglet Uniformity and Farrowing Interval
Yuan Wang et al.
FRONTIERS IN GENETICS (2017)
Isolation of subtelomeric sequences of porcine chromosomes for translocation screening reveals errors in the pig genome assembly
R. E. O'Connor et al.
ANIMAL GENETICS (2017)
Whole-genome association analysis of pork meat pH revealed three significant regions and several potential genes in Finnish Yorkshire pigs
Lucas L. Verardo et al.
BMC GENETICS (2017)
Developmental progress and current status of the Animal QTLdb
Zhi-Liang Hu et al.
NUCLEIC ACIDS RESEARCH (2016)
Haplotyping germline and cancer genomes with high-throughput linked-read sequencing
Grace X. Y. Zheng et al.
NATURE BIOTECHNOLOGY (2016)
Coming of age: ten years of next-generation sequencing technologies
Sara Goodwin et al.
NATURE REVIEWS GENETICS (2016)
A decade of pig genome sequencing: a window on pig domestication and evolution
Martien A. M. Groenen
GENETICS SELECTION EVOLUTION (2016)
MOLECULAR CYTOGENETICS IN THE DIAGNOSTICS OF BALANCED CHROMOSOME MUTATIONS IN THE PIG (SUS SCROFA) - A REVIEW
Barbara Danielak-Czech et al.
ANNALS OF ANIMAL SCIENCE (2016)
Prevalence and consequences of chromosomal abnormalities in Canadian commercial swine herds
Anh T. Quach et al.
GENETICS SELECTION EVOLUTION (2016)
Copy number variations in high and low fertility breeding boars
Tamas Revay et al.
BMC GENOMICS (2015)
Evidence of long-term gene flow and selection during domestication from analyses of Eurasian wild and domestic pig genomes
Laurent A. F. Frantz et al.
NATURE GENETICS (2015)
Structural variation discovery in the cancer genome using next generation sequencing: computational solutions and perspectives
Biao Liu et al.
ONCOTARGET (2015)
Copy number variation-based genome wide association study reveals additional variants contributing to meat quality in Swine
Ligang Wang et al.
SCIENTIFIC REPORTS (2015)
Illegitimate recombination between T cell receptor genes in humans and pigs (Sus scrofa domestica)
Petra Musilova et al.
CHROMOSOME RESEARCH (2014)
A Robust Approach for Blind Detection of Balanced Chromosomal Rearrangements with Whole-Genome Low-Coverage Sequencing
Zirui Dong et al.
HUMAN MUTATION (2014)
Genomic information in pig breeding: Science meets industry needs
Noelia Ibanez-Escriche et al.
LIVESTOCK SCIENCE (2014)
Meiotic Recombination Analyses of Individual Chromosomes in Male Domestic Pigs (Sus scrofa domestica)
Nicolas Mary et al.
PLOS ONE (2014)
IDENTIFICATION OF TELOMERIC SEQUENCES IN PIGS WITH REARRANGED KARYOTYPE USING PRINS TECHNIQUE
Barbara Danielak-Czech et al.
ANNALS OF ANIMAL SCIENCE (2013)
Nucleotide-resolution DNA double-strand break mapping by next-generation sequencing
Nicola Crosetto et al.
NATURE METHODS (2013)
Accelerating Improvement of Livestock with Genomic Selection
Theo Meuwissen et al.
ANNUAL REVIEW OF ANIMAL BIOSCIENCES, VOL 1 (2013)
High-resolution autosomal radiation hybrid maps of the pig genome and their contribution to the genome sequence assembly
Bertrand Servin et al.
BMC GENOMICS (2012)
A high density recombination map of the pig reveals a correlation between sex-specific recombination and GC content
Flavie Tortereau et al.
BMC GENOMICS (2012)
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies
Beata A. Nowakowska et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Analyses of pig genomes provide insight into porcine demography and evolution
Martien A. M. Groenen et al.
NATURE (2012)
Y-Autosome Translocation Interferes with Meiotic Sex Inactivation and Expression of Autosomal Genes: A Case Study in the Pig
H. Barasc et al.
SEXUAL DEVELOPMENT (2012)
Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research
Michael E. Talkowski et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Use of single nucleotide polymorphism microarrays to distinguish between balanced and normal chromosomes in embryos from a translocation carrier
Nathan R. Treff et al.
FERTILITY AND STERILITY (2011)
Preparation of chromosome-specific paints and complete assignment of chromosomes in the pig flow karyotype
C. F. Langford et al.
ANIMAL GENETICS (2010)
Mechanisms of chromosomal rearrangement in the human genome
Albert G. Tsai et al.
BMC GENOMICS (2010)
Studies of male and female meiosis in inv(4)(p1.4;q2.3) pig carriers
Katia Massip et al.
CHROMOSOME RESEARCH (2010)
Gametic products transmitted by rcp(13q-;14q+) translocation heterozygous pigs, and resulting embryonic loss
W. A. KING et al.
HEREDITAS (2010)
Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes
Alan H. Handyside et al.
JOURNAL OF MEDICAL GENETICS (2010)
Human interphase chromosomes: a review of available molecular cytogenetic technologies
Svetlana G. Vorsanova et al.
MOLECULAR CYTOGENETICS (2010)
Copy Number Variation in Human Health, Disease, and Evolution
Feng Zhang et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS (2009)
Investigation of Chromosome Aneuploidies in Early Porcine Embryos Using Comparative Genomic Hybridization
M. Hornak et al.
CYTOGENETIC AND GENOME RESEARCH (2009)
Fluorescence in situ Hybridization Applied to Domestic Animal Cytogenetics
J. Rubes et al.
CYTOGENETIC AND GENOME RESEARCH (2009)
Fragile Sites in Domestic Animal Chromosomes: Molecular Insights and Challenges
P. K. Riggs et al.
CYTOGENETIC AND GENOME RESEARCH (2009)
Analysis Using Sperm-FISH of a Putative Interchromosomal Effect in Boars Carrying Reciprocal Translocations
A. Bonnet-Garnier et al.
CYTOGENETIC AND GENOME RESEARCH (2009)
Male Meiotic Segregation Analyses of Peri- and Paracentric Inversions in the Pig Species
K. Massip et al.
CYTOGENETIC AND GENOME RESEARCH (2009)
Giemsa staining patterns for identification of the pig mitotic chromosomes
Matts Hageltorn et al.
HEREDITAS (2009)
XX/XY chimerism in leucocytes of two intersexual pigs
BORIS SOMLEV et al.
HEREDITAS (2009)
Proceedings of the First International Conference for the Standardisation of Banded Karyotypes of Domestic Animals University of Reading Reading, England 2nd - 6th August 1976
C. E. Ford et al.
HEREDITAS (2009)
Influence of sex on the meiotic segregation of a t(13;17) Robertsonian translocation: a case study in the pig
A. Pinton et al.
HUMAN REPRODUCTION (2009)
Design of a High Density SNP Genotyping Assay in the Pig Using SNPs Identified and Characterized by Next Generation Sequencing Technology
Antonio M. Ramos et al.
PLOS ONE (2009)
Fluorescence in situ hybridization (FISH) Protocol in Human Sperm
Zaida Sarrate et al.
Jove-Journal of Visualized Experiments (2009)
Cytogenetic screening of livestock populations in Europe: an overview
A. Ducos et al.
CYTOGENETIC AND GENOME RESEARCH (2008)
Chromosomal abnormalities, meiotic behavior and fertility in domestic animals
D. A. F. Villagomez et al.
CYTOGENETIC AND GENOME RESEARCH (2008)
Veterinary cytogenetics: past and perspective
P. K. Basrur et al.
CYTOGENETIC AND GENOME RESEARCH (2008)
Meiotic studies in an azoospermic boar carrying a Y;14 translocation
A. Pinton et al.
CYTOGENETIC AND GENOME RESEARCH (2008)
The array CGH and its clinical applications
Marwan Shinawi et al.
DRUG DISCOVERY TODAY (2008)
The R-banded karyotype of the domestic pig (Sus scrofa dornestica L.)
MOGENS RØNNE et al.
HEREDITAS (2008)
Standard karyotype of the domestic pig
Ingemar Gustavsson
HEREDITAS (2008)
A Snapshot of CNVs in the Pig Genome
Joao Fadista et al.
PLOS ONE (2008)
Study of inter- and intra-individual variation of meiotic segregation patterns in t(3;15)(q27;q13) boars
K. Massip et al.
THERIOGENOLOGY (2008)
A high utility integrated map of the pig genome
Sean J. Humphray et al.
GENOME BIOLOGY (2007)
A new case of reciprocal translocation t(10;13)(q16;q21) diagnosed in an AI boar
Barbara Danielak-Czech et al.
JOURNAL OF APPLIED GENETICS (2007)
Global variation in copy number in the human genome
Richard Redon et al.
NATURE (2006)
Comparison of male and female meiotic segregation patterns in translocation heterozygotes:: a case study in an animal model (Sus scrofa domestica L.)
A Pinton et al.
HUMAN REPRODUCTION (2005)
Impact of genetic selection on management of boar replacement
JAB Robinson et al.
THERIOGENOLOGY (2005)
Comparative genomic hybridization analysis of hereditary swine cutaneous melanoma revealed loss of the swine 13q36-49 chromosomal region in the nodular melanoma subtype
F Apiou et al.
INTERNATIONAL JOURNAL OF CANCER (2004)
Fluorescence in situ hybridization in diluted and flow cytometrically sorted boar spermatozoa using specific DNA direct probes labelled by nick translation
I Parrilla et al.
REPRODUCTION (2003)
X/XY/XYY mosaicism as a cause of subfertility in boars: a single case study
CR Quilter et al.
ANIMAL GENETICS (2003)
Cytogenetic and molecular characterization of eight new reciprocal translocations in the pig species.: Estimation of their incidence in French populations
A Ducos et al.
GENETICS SELECTION EVOLUTION (2002)
A case of intersexuality in pigs associated with a de novo paracentric inversion 9 (p1.2; p2.2)
A Pinton et al.
ANIMAL GENETICS (2002)
The use of laser microdissection for the preparation of chromosome-specific painting probes in farm animals
S Kubickova et al.
CHROMOSOME RESEARCH (2002)
A porcine BAC library with tenfold genome coverage: a resource for physical and genetic map integration
SC Fahrenkrug et al.
MAMMALIAN GENOME (2001)
Assignment of T cell receptor (TCR) alpha-chain gene (A), beta-chain gene (B), gamma-chain gene (G), and delta-chain gene (D) loci on swine chromosomes by in situ hybridization and radiation hybrid mapping
H Hiraiwa et al.
CYTOGENETICS AND CELL GENETICS (2001)
Sexing of porcine embryo by in situ hybridization using chromosome Y- and 1-specific DNA probes
T Kawarasaki et al.
THERIOGENOLOGY (2000)
Chromosomal abnormalities in hypoprolific boars
A Pinton et al.
HEREDITAS (2000)