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

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

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Human minisatellites, repeat DNA instability and meiotic recombination
inferredcites →https://doi.org/10.1002/ajhb.20956openalex-snapshot
Ethnicity‐related skeletal muscle differences across the lifespan
inferredcites →https://doi.org/10.1016/j.ajhg.2008.10.006openalex-snapshot
Genome-wide Copy-Number-Variation Study Identified a Susceptibility Gene, UGT2B17, for Osteoporosis
inferredcites →https://doi.org/10.1016/j.tig.2008.03.001openalex-snapshot
The functional impact of structural variation in humans
inferredcites →https://doi.org/10.1038/456049aopenalex-snapshot
Individual genomes diversify
inferredcites →https://doi.org/10.1038/nature03001openalex-snapshot
Finishing the euchromatic sequence of the human genome
inferredcites →https://doi.org/10.1038/nature05329openalex-snapshot
Global variation in copy number in the human genome
inferredcites →https://doi.org/10.1038/nature06250openalex-snapshot
Genome-wide detection and characterization of positive selection in human populations
inferredcites →https://doi.org/10.1038/nature06258openalex-snapshot
A second generation human haplotype map of over 3.1 million SNPs
inferredcites →https://doi.org/10.1038/nature06611openalex-snapshot
Proportionally more deleterious genetic variation in European than in African populations
inferredcites →https://doi.org/10.1038/nature06862openalex-snapshot
Mapping and sequencing of structural variation from eight human genomes
inferredcites →https://doi.org/10.1038/nature06884openalex-snapshot
The complete genome of an individual by massively parallel DNA sequencing
inferredcites →https://doi.org/10.1038/nature07175openalex-snapshot
Single-nucleotide mutation rate increases close to insertions/deletions in eukaryotes
inferredcites →https://doi.org/10.1038/ng.128openalex-snapshot
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
inferredcites →https://doi.org/10.1038/ng.206openalex-snapshot
A robust statistical method for case-control association testing with copy number variation
inferredcites →https://doi.org/10.1038/ng.213openalex-snapshot
A common sequence motif associated with recombination hot spots and genome instability in humans
inferredcites →https://doi.org/10.1038/ng.215openalex-snapshot
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease
inferredcites →https://doi.org/10.1038/ng.238openalex-snapshot
Integrated detection and population-genetic analysis of SNPs and copy number variation
inferredcites →https://doi.org/10.1038/ng.287openalex-snapshot
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
inferredcites →https://doi.org/10.1038/ng.313openalex-snapshot
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis
inferredcites →https://doi.org/10.1038/ng1416openalex-snapshot
Detection of large-scale variation in the human genome
inferredcites →https://doi.org/10.1038/ng1562openalex-snapshot
Fine-scale structural variation of the human genome
inferredcites →https://doi.org/10.1038/ng1697openalex-snapshot
A high-resolution survey of deletion polymorphism in the human genome
inferredcites →https://doi.org/10.1038/ng2088openalex-snapshot
A new multipoint method for genome-wide association studies by imputation of genotypes
inferredcites →https://doi.org/10.1038/ng2092openalex-snapshot
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
inferredcites →https://doi.org/10.1038/ng2122openalex-snapshot
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans
inferredcites →https://doi.org/10.1073/pnas.0710183104openalex-snapshot
Positive selection at the protein network periphery: Evaluation in terms of structural constraints and cellular context
inferredcites →https://doi.org/10.1073/pnas.0903103106openalex-snapshot
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
inferredcites →https://doi.org/10.1073/pnas.90.1.297openalex-snapshot
High-frequency genetic reversion mediated by a DNA duplication: the mouse pink-eyed unstable mutation.
inferredcites →https://doi.org/10.1074/jbc.r400028200openalex-snapshot
Non-B DNA Conformations, Genomic Rearrangements, and Human Disease
inferredcites →https://doi.org/10.1086/341234openalex-snapshot
Intron-Size Constraint as a Mutational Mechanism in Rothmund-Thomson Syndrome
inferredcites →https://doi.org/10.1086/504600openalex-snapshot
Human Genomic Deletions Mediated by Recombination between Alu Elements
inferredcites →https://doi.org/10.1086/521987openalex-snapshot
Rapid and Accurate Haplotype Phasing and Missing-Data Inference for Whole-Genome Association Studies By Use of Localized Haplotype Clustering
inferredcites →https://doi.org/10.1093/bioinformatics/btm601openalex-snapshot
Sparse representation and Bayesian detection of genome copy number alterations from microarray data
inferredcites →https://doi.org/10.1093/nar/gki282openalex-snapshot
NestedMICA: sensitive inference of over-represented motifs in nucleic acid sequence
inferredcites →https://doi.org/10.1093/nar/gkl1057openalex-snapshot
G-quadruplexes in promoters throughout the human genome
inferredcites →https://doi.org/10.1097/gim.0b013e318183f848openalex-snapshot
Contemplating effects of genomic structural variation
inferredcites →https://doi.org/10.1098/rstb.2003.1372openalex-snapshot
Meiotic recombination hot spots and human DNA diversity
inferredcites →https://doi.org/10.1101/gr.085647.108openalex-snapshot
The apolipoprotein L family of programmed cell death and immunity genes rapidly evolved in primates at discrete sites of host–pathogen interactions
inferredcites →https://doi.org/10.1101/gr.087577.108openalex-snapshot
Signals of recent positive selection in a worldwide sample of human populations
inferredcites →https://doi.org/10.1101/gr.088336.108openalex-snapshot
Darwinian and demographic forces affecting human protein coding genes
inferredcites →https://doi.org/10.1101/gr.10.4.411openalex-snapshot
Frequent Human Genomic DNA Transduction Driven by LINE-1 Retrotransposition
inferredcites →https://doi.org/10.1126/science.1136678openalex-snapshot
Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes
inferredcites →https://doi.org/10.1126/science.1149504openalex-snapshot
Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome
inferredcites →https://doi.org/10.1126/science.1158078openalex-snapshot
Natural Selection Shapes Genome-Wide Patterns of Copy-Number Polymorphism in Drosophila melanogaster
inferredcites →https://doi.org/10.1159/000353879openalex-snapshot
Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities
inferredcites →https://doi.org/10.1159/000370213openalex-snapshot
Prescribing Personalized Nutrition for Cardiovascular Health: Are We Ready?
inferredcites →https://doi.org/10.1186/1755-8417-1-4openalex-snapshot
Mechanisms for human genomic rearrangements
inferredcites →https://doi.org/10.1371/journal.pbio.0040072openalex-snapshot
A Map of Recent Positive Selection in the Human Genome
inferredcites →https://doi.org/10.1371/journal.pbio.0050254openalex-snapshot
The Diploid Genome Sequence of an Individual Human
inferredcites →https://doi.org/10.1371/journal.pgen.1000083openalex-snapshot
Assessing the Evolutionary Impact of Amino Acid Mutations in the Human Genome
inferredcites →https://doi.org/10.1371/journal.pgen.1000160openalex-snapshot
Genetic Variation in an Individual Human Exome

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

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ADD, ADHD: Genetics, Cross-Cultural Research and Drugs, Depression and Suicide in Children
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Copy Number Variations and Cognitive Phenotypes in Unselected Populations
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Analyzing Copy Number Variation Using SNP Array Data: Protocols for Calling CNV and Association Tests
inferred← citeshttps://doi.org/10.1002/0471142905.hg0719s75openalex-snapshot
A Survey of Copy‐Number Variation Detection Tools Based on High‐Throughput Sequencing Data
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Interpretation of Genomic Copy Number Variants Using DECIPHER
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A comprehensive analysis of SNPs and CNVs identifies novel markers associated with disease outcomes in colorectal cancer
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Human Populations: Origins and Evolution
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Comparative Genomic Hybridization in the Study of Human Disease
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Studying Genomic Aberrations by Microarray Profiling
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Studying Genomic and Epigenetic Aberrations by Microarray Profiling
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Copy Number Variations and Neuropsychiatric Diseases
inferred← citeshttps://doi.org/10.1002/9780470015902.a0022657openalex-snapshot
Non‐B DNA Structure and Mutations Causing Human Genetic Disease
inferred← citeshttps://doi.org/10.1002/9780470015902.a0022657.pub2openalex-snapshot
Non‐ B DNA Structure and Mutations Causing Human Genetic Disease
inferred← citeshttps://doi.org/10.1002/9780470015902.a0022658openalex-snapshot
Research on Rare Variants for Complex Diseases
inferred← citeshttps://doi.org/10.1002/9780470015902.a0022659openalex-snapshot
Genome‐wide Association Studies of Cancers
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Genomic Rearrangements: Mutational Mechanisms
inferred← citeshttps://doi.org/10.1002/9780470015902.a0023399openalex-snapshot
Characterising Structural Variation by Means of Next‐Generation Sequencing
inferred← citeshttps://doi.org/10.1002/9780470015902.a0023854openalex-snapshot
Germline Copy Number Variation and Cancer Risk
inferred← citeshttps://doi.org/10.1002/9780470015902.a0025028openalex-snapshot
Germline Genomic Copy Number Variation Contribution to Cancer Predisposition
inferred← citeshttps://doi.org/10.1002/9780470015902.a0025048openalex-snapshot
Genetics of Depression
inferred← citeshttps://doi.org/10.1002/9780470015902.a0026319openalex-snapshot
Gene Copy‐Number Changes in Evolution
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Human Populations: Origins and Evolution
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Comparative Genomics Approaches and Technologies
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Impact of Genomewide Structural Variation on Gene Discovery
inferred← citeshttps://doi.org/10.1002/9780471650126.dob0850openalex-snapshot
Copy Number Variation
inferred← citeshttps://doi.org/10.1002/9781118381953.ch56openalex-snapshot
Tic disorders
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Bacterial artificial chromosome, oligoarray and single nucleotide polymorphism array methodologies for analysis
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Recent Progress in Identifying Genes Contributing to Type 2 Diabetes and Metabolic Syndrome
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Integration of Biotechnologies for the Development of Personalized Medicine
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Deciphering DNA Sequence Information
inferred← citeshttps://doi.org/10.1002/advs.202523333openalex-snapshot
Deciphering the Evolution Pattern of Structural Variations Overlapped With Repetitive Sequence During Cattle Evolution
inferred← citeshttps://doi.org/10.1002/ajmg.a.34015openalex-snapshot
TGFBR2 deletion in a 20‐month‐old female with developmental delay and microcephaly
inferred← citeshttps://doi.org/10.1002/ajmg.a.34195openalex-snapshot
Pitfalls in the use of DGV for CNV interpretation
inferred← citeshttps://doi.org/10.1002/ajmg.b.32199openalex-snapshot
Genome‐wide copy number scan identifies disruption of PCDH11X in developmental dyslexia
inferred← citeshttps://doi.org/10.1002/ajmg.b.32260openalex-snapshot
Family based genome‐wide copy number scan identifies complex rearrangements at 17q21.31 in dyslexics
inferred← citeshttps://doi.org/10.1002/ajp.22583openalex-snapshot
Non‐human primates avoid the detrimental effects of prenatal androgen exposure in mixed‐sex litters: combined demographic, behavioral, and genetic analyses
inferred← citeshttps://doi.org/10.1002/ajp.70105openalex-snapshot
Recent Insights Into the Evolutionary Genomics of the Critically Endangered Aye‐Aye ( Daubentonia madagascariensis )
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Genomic structural variation: A complex but important driver of human evolution
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Nucleic acid metabolism and systemic autoimmunity revisited
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Challenges in studying genomic structural variant formation mechanisms: The short‐read dilemma and beyond
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Disruption of regulatory domains and novel transcripts as disease‐causing mechanisms
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Optical mapping of DNA: Single‐molecule‐based methods for mapping genomes
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Germline INDEL s and CNV s in a cohort of colorectal cancer patients: their characteristics, associations with relapse‐free survival time, and potential time‐varying effects on the risk of relapse
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Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout
inferred← citeshttps://doi.org/10.1002/eji.201242601openalex-snapshot
Copy number variation in autoimmunity — importance hidden in complexity?
inferred← citeshttps://doi.org/10.1002/elps.201800309openalex-snapshot
Development of 3D printed mesofluidic devices to elute and concentrate DNA
inferred← citeshttps://doi.org/10.1002/em.20613openalex-snapshot
Germ cell mutagens: Risk assessment challenges in the 21st century
inferred← citeshttps://doi.org/10.1002/em.22233openalex-snapshot
Effects of hydroxyurea on CNV induction in the mouse germline
inferred← citeshttps://doi.org/10.1002/emmm.201000111openalex-snapshot
Copy number variation and susceptibility to complex traits
inferred← citeshttps://doi.org/10.1002/emmm.201100157openalex-snapshot
Links between genetics and pathophysiology in the autism spectrum disorders
inferred← citeshttps://doi.org/10.1002/gcc.22006openalex-snapshot
Focal aberrations indicate EYA2 and hsa‐miR‐375 as oncogene and tumor suppressor in cervical carcinogenesis
inferred← citeshttps://doi.org/10.1002/gcc.22331openalex-snapshot
Recurrent somatic loss of TNFRSF14 in classical Hodgkin lymphoma
inferred← citeshttps://doi.org/10.1002/gcc.22365openalex-snapshot
Pan‐cancer analysis of copy number changes in programmed death‐ligand 1 (PD‐L1, CD274) – associations with gene expression, mutational load, and survival
inferred← citeshttps://doi.org/10.1002/gcc.22378openalex-snapshot
Copy number changes of clinically actionable genes in melanoma, non‐small cell lung cancer and colorectal cancer—A survey across 822 routine diagnostic cases
inferred← citeshttps://doi.org/10.1002/gcc.22693openalex-snapshot
WWOX, the FRA16D gene: A target of and a contributor to genomic instability
inferred← citeshttps://doi.org/10.1002/gepi.20604openalex-snapshot
Bayesian hierarchical mixture modeling to assign copy number from a targeted CNV array
inferred← citeshttps://doi.org/10.1002/gepi.20633openalex-snapshot
PlatinumCNV: A Bayesian Gaussian mixture model for genotyping copy number polymorphisms using SNP array signal intensity data
inferred← citeshttps://doi.org/10.1002/gepi.21936openalex-snapshot
Assessing the Genetic Predisposition of Education on Myopia: A Mendelian Randomization Study
inferred← citeshttps://doi.org/10.1002/gepi.22558openalex-snapshot
OSCAA: A two‐dimensional Gaussian mixture model for copy number variation association analysis
inferred← citeshttps://doi.org/10.1002/humu.21259openalex-snapshot
Assessment of complement C4 gene copy number using the paralog ratio test
inferred← citeshttps://doi.org/10.1002/humu.21260openalex-snapshot
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics
inferred← citeshttps://doi.org/10.1002/humu.21287openalex-snapshot
Genomic copy number variations in three Southeast Asian populations
inferred← citeshttps://doi.org/10.1002/humu.21323openalex-snapshot
A response to: BAK1 gene variation and abdominal aortic aneurysms-results may have been prematurely overrated. Questions of sequence fidelity, intraorganismal genetic heterogeneity, the nature of pseudogenes, and RNA editing
inferred← citeshttps://doi.org/10.1002/humu.21360openalex-snapshot
Detection of clinically relevant exonic copy-number changes by array CGH
inferred← citeshttps://doi.org/10.1002/humu.21398openalex-snapshot
Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study
inferred← citeshttps://doi.org/10.1002/humu.21491openalex-snapshot
A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia
inferred← citeshttps://doi.org/10.1002/humu.21524openalex-snapshot
Characterization of copy number‐stable regions in the human genome
inferred← citeshttps://doi.org/10.1002/humu.21601openalex-snapshot
SgD-CNV, a database for common and rare copy number variants in three Asian populations
inferred← citeshttps://doi.org/10.1002/humu.21614openalex-snapshot
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
inferred← citeshttps://doi.org/10.1002/humu.22031openalex-snapshot
Confirmation of association of FCGR3B but not FCGR3A copy number with susceptibility to autoantibody positive rheumatoid arthritis
inferred← citeshttps://doi.org/10.1002/humu.22049openalex-snapshot
Diagnostic interpretation of array data using public databases and internet sources
inferred← citeshttps://doi.org/10.1002/humu.22050openalex-snapshot
The introduction of arrays in prenatal diagnosis: A special challenge
inferred← citeshttps://doi.org/10.1002/humu.22172openalex-snapshot
Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility
inferred← citeshttps://doi.org/10.1002/humu.22240openalex-snapshot
Mechanisms of Formation of Structural Variation in a Fully Sequenced Human Genome
inferred← citeshttps://doi.org/10.1002/humu.22288openalex-snapshot
An MLPA-Based Strategy for Discrete CNV Genotyping: CNV-miRNAs as an Example
inferred← citeshttps://doi.org/10.1002/humu.22384openalex-snapshot
Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
inferred← citeshttps://doi.org/10.1002/humu.22387openalex-snapshot
Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing
inferred← citeshttps://doi.org/10.1002/humu.22471openalex-snapshot
A 129-kb Deletion on Chromosome 12 Confers Substantial Protection Against Rheumatoid Arthritis, Implicating the GeneSLC2A3
inferred← citeshttps://doi.org/10.1002/humu.22483openalex-snapshot
Insight intoIKBKG/NEMOLocus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease
inferred← citeshttps://doi.org/10.1002/humu.22537openalex-snapshot
An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data
inferred← citeshttps://doi.org/10.1002/humu.22589openalex-snapshot
Structural Genomic Variation as Risk Factor for Idiopathic Recurrent Miscarriage
inferred← citeshttps://doi.org/10.1002/humu.23159openalex-snapshot
Understanding the Genomic Structure of Copy-Number Variation of the Low-Affinity Fcγ Receptor Region Allows Confirmation of the Association ofFCGR3BDeletion with Rheumatoid Arthritis
inferred← citeshttps://doi.org/10.1002/humu.23182openalex-snapshot
Recurrent Rearrangements of Human Amylase Genes Create Multiple Independent CNV Series
inferred← citeshttps://doi.org/10.1002/humu.23419openalex-snapshot
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors
inferred← citeshttps://doi.org/10.1002/humu.24461openalex-snapshot
Long read sequencing and expression studies ofAHDC1deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism
inferred← citeshttps://doi.org/10.1002/jcb.24565openalex-snapshot
MiR‐23a in amplified 19p13.13 loci targets metallothionein 2A and promotes growth in gastric cancer cells
inferred← citeshttps://doi.org/10.1002/jez.2077openalex-snapshot
Copy number variation of a protease gene of Daphnia : Its role in population tolerance
inferred← citeshttps://doi.org/10.1002/jor.22310openalex-snapshot
Segmental copy number loss in the region of Semaphorin 4D gene in patients with acetabular dysplasia
inferred← citeshttps://doi.org/10.1002/mgg3.1387openalex-snapshot
Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy
inferred← citeshttps://doi.org/10.1002/mgg3.1450openalex-snapshot
Interaction between a haptoglobin genetic variant and coronary artery disease (CAD) risk factors on CAD severity in Singaporean Chinese population
inferred← citeshttps://doi.org/10.1002/mgg3.399openalex-snapshot
Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq™ custom panel
inferred← citeshttps://doi.org/10.1002/mgg3.70019openalex-snapshot
Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data‐Based Read‐Depth Approach
inferred← citeshttps://doi.org/10.1002/oby.22565openalex-snapshot
No Evidence for Association of BMI with Salivary Amylase Gene Copy Number in the UK 1958 Birth Cohort
inferred← citeshttps://doi.org/10.1002/pd.3861openalex-snapshot
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature
inferred← citeshttps://doi.org/10.1002/pd.5249openalex-snapshot
Clinical application of chromosomal microarray analysis for the prenatal diagnosis of chromosomal abnormalities and copy number variations in fetuses with congenital heart disease
inferred← citeshttps://doi.org/10.1002/pros.22602openalex-snapshot
Characterization of germline copy number variation in high‐risk African American families with prostate cancer
inferred← citeshttps://doi.org/10.1002/pros.70128openalex-snapshot
Evaluation of Loss of the Y Chromosome in Peripheral Blood as a Biomarker for Prostate Cancer
inferred← citeshttps://doi.org/10.1002/rrq.439openalex-snapshot
The Role of Neural and Genetic Processes in Learning to Read and Specific Reading Disabilities: Implications for Instruction
inferred← citeshttps://doi.org/10.1002/sim.3890openalex-snapshot
Multiple correspondence discriminant analysis: An application to detect stratification in copy number variation
inferred← citeshttps://doi.org/10.1002/stem.2797openalex-snapshot
Concise Review: Assessing the Genome Integrity of Human Induced Pluripotent Stem Cells: What Quality Control Metrics?
inferred← citeshttps://doi.org/10.1002/stem.762openalex-snapshot
Concise Review: The Promise of Human Induced Pluripotent Stem Cell-Based Studies of Schizophrenia
inferred← citeshttps://doi.org/10.1002/yea.3142openalex-snapshot
Population genomics of yeasts: towards a comprehensive view across a broad evolutionary scale
inferred← citeshttps://doi.org/10.1007/13836_2018_34openalex-snapshot
Structural Variants in Ancient Genomes
inferred← citeshttps://doi.org/10.1007/5584_2016_235openalex-snapshot
Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies
inferred← citeshttps://doi.org/10.1007/7854_2010_58openalex-snapshot
Experimental Approaches for Identifying Schizophrenia Risk Genes
inferred← citeshttps://doi.org/10.1007/7854_2011_179openalex-snapshot
Rare Genomic Deletions and Duplications and their Role in Neurodevelopmental Disorders
inferred← citeshttps://doi.org/10.1007/7854_2018_57openalex-snapshot
Stem Cells to Inform the Neurobiology of Mental Illness
inferred← citeshttps://doi.org/10.1007/978-1-0716-0026-9_17openalex-snapshot
Tissue-Specific eQTL in Zebrafish
inferred← citeshttps://doi.org/10.1007/978-1-0716-2357-2_10openalex-snapshot
Copy Number Variation Analysis from SNP Genotyping Microarrays in Large Cohorts of Neurological Disorders
inferred← citeshttps://doi.org/10.1007/978-1-4419-1005-9_631openalex-snapshot
Cachexia (Wasting Syndrome)
inferred← citeshttps://doi.org/10.1007/978-1-4419-7034-3_2openalex-snapshot
The Contribution of Heredity to Clinical Obesity
inferred← citeshttps://doi.org/10.1007/978-1-4614-0965-6_10openalex-snapshot
The Genetic Determinants of Common Obesity-Susceptibility
inferred← citeshttps://doi.org/10.1007/978-1-4614-5434-2_1openalex-snapshot
Tandem Repeat Polymorphisms
inferred← citeshttps://doi.org/10.1007/978-1-4614-8078-5_7openalex-snapshot
Recurrent CNVs in the Etiology of Epigenetic Neurodevelopmental Disorders
inferred← citeshttps://doi.org/10.1007/978-1-4614-8642-8_4openalex-snapshot
Copy Number Variants and Their Contribution to the Risk of Obesity
inferred← citeshttps://doi.org/10.1007/978-1-4939-0847-9_8openalex-snapshot
Chromosome Microarrays in Diagnostic Testing: Interpreting the Genomic Data
inferred← citeshttps://doi.org/10.1007/978-1-4939-1062-5_26openalex-snapshot
A Schematic Workflow for Collecting Information About the Interaction Between Copy Number Variants and MicroRNAs Using Existing Resources
inferred← citeshttps://doi.org/10.1007/978-1-4939-1652-8_16openalex-snapshot
Application of BAC-Probes to Visualize Copy Number Variants (CNVs)
inferred← citeshttps://doi.org/10.1007/978-1-4939-2553-7_1openalex-snapshot
Basic Aspects
inferred← citeshttps://doi.org/10.1007/978-1-4939-6442-0_8openalex-snapshot
Analysis of Copy Number Variation Using the Paralogue Ratio Test (PRT)
inferred← citeshttps://doi.org/10.1007/978-1-4939-6703-2_15openalex-snapshot
Array-Based Comparative Genomic Hybridization (aCGH)
inferred← citeshttps://doi.org/10.1007/978-1-4939-7280-7_1openalex-snapshot
Principles and Approaches for Discovery and Validation of Somatic Mosaicism in the Human Brain
inferred← citeshttps://doi.org/10.1007/978-1-4939-7868-7_14openalex-snapshot
Copy Number Variation
inferred← citeshttps://doi.org/10.1007/978-1-4939-8666-8_9openalex-snapshot
Detection of CNVs in NGS Data Using VS-CNV
inferred← citeshttps://doi.org/10.1007/978-1-4939-8669-9_1openalex-snapshot
Identification and Analysis of Genes Associated with Inherited Retinal Diseases
inferred← citeshttps://doi.org/10.1007/978-1-60761-355-8_1openalex-snapshot
Fundamental Concepts in Exercise Genomics
inferred← citeshttps://doi.org/10.1007/978-1-61779-027-0_11openalex-snapshot
Bioinformatics for Copy Number Variation Data
inferred← citeshttps://doi.org/10.1007/978-1-61779-176-5_1openalex-snapshot
Accessing and Selecting Genetic Markers from Available Resources
inferred← citeshttps://doi.org/10.1007/978-1-61779-507-7_1openalex-snapshot
What Have Studies of Genomic Disorders Taught Us About Our Genome?
inferred← citeshttps://doi.org/10.1007/978-1-61779-507-7_10openalex-snapshot
Population Genetic Nature of Copy Number Variation
inferred← citeshttps://doi.org/10.1007/978-1-61779-507-7_11openalex-snapshot
Detection and Interpretation of Genomic Structural Variation in Mammals
inferred← citeshttps://doi.org/10.1007/978-1-61779-507-7_12openalex-snapshot
Structural Genetic Variation in the Context of Somatic Mosaicism
inferred← citeshttps://doi.org/10.1007/978-1-61779-507-7_3openalex-snapshot
Structural Genomic Variation in Intellectual Disability
inferred← citeshttps://doi.org/10.1007/978-1-61779-507-7_4openalex-snapshot
Copy Number Variation and Psychiatric Disease Risk
inferred← citeshttps://doi.org/10.1007/978-1-61779-507-7_7openalex-snapshot
Array-Based Approaches in Prenatal Diagnosis
inferred← citeshttps://doi.org/10.1007/978-1-61779-507-7_8openalex-snapshot
Structural Variation and Its Effect on Expression
inferred← citeshttps://doi.org/10.1007/978-1-61779-507-7_9openalex-snapshot
The Challenges of Studying Complex and Dynamic Regions of the Human Genome
inferred← citeshttps://doi.org/10.1007/978-1-61779-585-5_7openalex-snapshot
The Origin and Evolution of New Genes
inferred← citeshttps://doi.org/10.1007/978-1-62703-038-0_34openalex-snapshot
A Review of Genome-Wide Approaches to Study the Genetic Basis for Spermatogenic Defects
inferred← citeshttps://doi.org/10.1007/978-1-62703-281-0_1openalex-snapshot
Array Comparative Genomic Hybridization: An Overview of Protocols, Applications, and Technology Trends
inferred← citeshttps://doi.org/10.1007/978-1-62703-281-0_22openalex-snapshot
Distinguishing Somatic and Germline Copy Number Events in Cancer Patient DNA Hybridized to Whole-Genome SNP Genotyping Arrays
inferred← citeshttps://doi.org/10.1007/978-1-62703-435-7_14openalex-snapshot
SCAN: A Systems Biology Approach to Pharmacogenomic Discovery
inferred← citeshttps://doi.org/10.1007/978-3-030-03934-9_1openalex-snapshot
Systemic Lupus Erythematosus
inferred← citeshttps://doi.org/10.1007/978-3-030-27684-3_2openalex-snapshot
Smart Persistence and Accessibility of Genomic and Clinical Data
inferred← citeshttps://doi.org/10.1007/978-3-030-31507-8_7openalex-snapshot
Genetics of Lung Cancer
inferred← citeshttps://doi.org/10.1007/978-3-030-39903-0_682openalex-snapshot
Copy Number Variant (CNV)
inferred← citeshttps://doi.org/10.1007/978-3-030-62080-6_1openalex-snapshot
Basic Aspects
inferred← citeshttps://doi.org/10.1007/978-3-030-73151-9_9openalex-snapshot
Copy Number Variation in the Human Genome
inferred← citeshttps://doi.org/10.1007/978-3-030-91836-1_4openalex-snapshot
Identification of Copy Number Alterations from Next-Generation Sequencing Data
inferred← citeshttps://doi.org/10.1007/978-3-031-99586-6_20openalex-snapshot
Unmasking of ‘Mitochondrial Adam’: Structural Variants Larger Than Single Nucleotide Polymorphism as Stronger Candidates for Phenotype and Gender Determination
inferred← citeshttps://doi.org/10.1007/978-3-319-17157-9_13openalex-snapshot
CNV and Structural Variation in Plants: Prospects of NGS Approaches
inferred← citeshttps://doi.org/10.1007/978-3-319-17223-1_9openalex-snapshot
Genetics of Tourette Syndrome
inferred← citeshttps://doi.org/10.1007/978-3-319-19674-9_60openalex-snapshot
Next-Generation Sequencing for the Analysis of Cancer Specimens
inferred← citeshttps://doi.org/10.1007/978-3-319-48344-3_4openalex-snapshot
The Mobilisation of Processed Transcripts in Germline and Somatic Tissues
inferred← citeshttps://doi.org/10.1007/978-3-319-61569-1_2openalex-snapshot
Evolution and Diversity of Defensins in Vertebrates
inferred← citeshttps://doi.org/10.1007/978-3-319-64096-9_8openalex-snapshot
Prostate Cancer Risk: Single Nucleotide Polymorphisms (SNPs)
inferred← citeshttps://doi.org/10.1007/978-3-319-66114-8_1openalex-snapshot
Introduction to Genes, Genome and Inheritance
inferred← citeshttps://doi.org/10.1007/978-3-319-67144-4_3openalex-snapshot
Intellectual Disability & Rare Disorders: A Diagnostic Challenge
inferred← citeshttps://doi.org/10.1007/978-3-319-67834-4_13openalex-snapshot
IRIS-TCGA: An Information Retrieval and Integration System for Genomic Data of Cancer
inferred← citeshttps://doi.org/10.1007/978-3-319-77812-9_12openalex-snapshot
Atrial Fibrillation
inferred← citeshttps://doi.org/10.1007/978-3-319-99133-7_11openalex-snapshot
Classifying Big DNA Methylation Data: A Gene-Oriented Approach
inferred← citeshttps://doi.org/10.1007/978-3-642-02202-9_4openalex-snapshot
Cytogenetic Testing and Chromosomal Disorders
inferred← citeshttps://doi.org/10.1007/978-3-642-27843-3_13-1openalex-snapshot
Translational Research Methods: Basics of Renal Molecular Biology
inferred← citeshttps://doi.org/10.1007/978-3-642-30191-9_3openalex-snapshot
A Mixed Integer Programming Model for the Parsimonious Loss of Heterozygosity Problem
inferred← citeshttps://doi.org/10.1007/978-3-642-31842-9_12openalex-snapshot
Transposable Element Exaptation in Plants
inferred← citeshttps://doi.org/10.1007/978-3-642-36450-1_4openalex-snapshot
Genomics
inferred← citeshttps://doi.org/10.1007/978-3-662-43596-0_13openalex-snapshot
Translational Research Methods: Basics of Renal Molecular Biology
inferred← citeshttps://doi.org/10.1007/978-3-662-46306-2_2openalex-snapshot
The Human Genome Project: Where Are We Now and Where Are We Going?
inferred← citeshttps://doi.org/10.1007/978-3-662-46306-2_6openalex-snapshot
Copy Number Variations and Chronic Diseases
inferred← citeshttps://doi.org/10.1007/978-3-7091-1556-5_6openalex-snapshot
Normal Human Serum Lysis of Non-human Trypanosomes and Resistance of T. b. rhodesiense and T. b. gambiense
inferred← citeshttps://doi.org/10.1007/978-81-322-0843-3_25openalex-snapshot
Pharmacogenomics–Pharmacoepigenomics of Breast Cancer Therapy: Clinical Implications
inferred← citeshttps://doi.org/10.1007/978-94-007-5558-1_9openalex-snapshot
Gene Duplication and Functional Consequences
inferred← citeshttps://doi.org/10.1007/978-94-007-5958-9openalex-snapshot
Tumor Dormancy, Quiescence, and Senescence, Volume 1
inferred← citeshttps://doi.org/10.1007/978-94-007-5958-9_4openalex-snapshot
Determination of Breast Cancer Dormancy: Analysis of Circulating Free DNA Using SNP 6.0 Arrays
inferred← citeshttps://doi.org/10.1007/978-94-017-7408-6_5openalex-snapshot
Complex Selective Forces Shaping the Genes Underlying Human Diseases
inferred← citeshttps://doi.org/10.1007/978-94-024-2168-2_1openalex-snapshot
Evolving Approaches to Identifying Genetic Risk Variants for Sleep Disorders
inferred← citeshttps://doi.org/10.1007/978-981-10-1618-9_7openalex-snapshot
A Developed Accurate Digital PCR Detection Technology in Food Safety
inferred← citeshttps://doi.org/10.1007/978-981-96-9603-1_11openalex-snapshot
A Developed Accurate Digital PCR Detection Technology in Food Safety
inferred← citeshttps://doi.org/10.1007/978-981-97-5250-8_3openalex-snapshot
Genetic Variation and Assessment Tools for Conservation and Management of Fish Genetic Resources (FiGR)
inferred← citeshttps://doi.org/10.1007/s00122-013-2177-7openalex-snapshot
Copy number polymorphism in plant genomes
inferred← citeshttps://doi.org/10.1007/s00122-015-2458-4openalex-snapshot
PAV markers in Sorghum bicolour: genome pattern, affected genes and pathways, and genetic linkage map construction
inferred← citeshttps://doi.org/10.1007/s00227-016-2896-9openalex-snapshot
Identification of a uniquely expanded V1R (ORA) gene family in the Japanese grenadier anchovy (Coilia nasus)
inferred← citeshttps://doi.org/10.1007/s00239-010-9381-8openalex-snapshot
Variable Numbers of Tandem Repeats in Plasmodium falciparum Genes
inferred← citeshttps://doi.org/10.1007/s00239-010-9383-6openalex-snapshot
AVPR1A Sequence Variation in Monogamous Owl Monkeys (Aotus azarai) and Its Implications for the Evolution of Platyrrhine Social Behavior
inferred← citeshttps://doi.org/10.1007/s00239-019-09911-6openalex-snapshot
An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health
inferred← citeshttps://doi.org/10.1007/s00239-022-10081-1openalex-snapshot
Very Low Rates of Spontaneous Gene Deletions and Gene Duplications in Dictyostelium discoideum
inferred← citeshttps://doi.org/10.1007/s00251-015-0893-7openalex-snapshot
Targeted capture enrichment and sequencing identifies extensive nucleotide variation in the turkey MHC-B
inferred← citeshttps://doi.org/10.1007/s00335-010-9308-0openalex-snapshot
Initial analysis of copy number variations in cattle selected for resistance or susceptibility to intestinal nematodes
inferred← citeshttps://doi.org/10.1007/s00335-012-9402-6openalex-snapshot
Next-generation sequencing of experimental mouse strains
inferred← citeshttps://doi.org/10.1007/s00335-012-9409-zopenalex-snapshot
Association studies in outbred mice in a new era of full-genome sequencing
inferred← citeshttps://doi.org/10.1007/s00335-013-9449-zopenalex-snapshot
Genome-wide copy number variation in Hanwoo, Black Angus, and Holstein cattle
inferred← citeshttps://doi.org/10.1007/s00335-013-9483-xopenalex-snapshot
Copy number variations of MICAL-L2 shaping gene expression contribute to different phenotypes of cattle
inferred← citeshttps://doi.org/10.1007/s00335-017-9703-xopenalex-snapshot
Modeling human disease in rodents by CRISPR/Cas9 genome editing
inferred← citeshttps://doi.org/10.1007/s00335-019-09812-5openalex-snapshot
Transposable element-mediated structural variation analysis in dog breeds using whole-genome sequencing
inferred← citeshttps://doi.org/10.1007/s00438-013-0799-8openalex-snapshot
Age distribution patterns of human gene families: divergent for Gene Ontology categories and concordant between different subcellular localizations
inferred← citeshttps://doi.org/10.1007/s00438-014-0923-4openalex-snapshot
Identification of copy number variations in Qinchuan cattle using BovineHD Genotyping Beadchip array
inferred← citeshttps://doi.org/10.1007/s00438-015-1017-7openalex-snapshot
Genome-wide patterns of genetic variation among silkworms
inferred← citeshttps://doi.org/10.1007/s00438-018-01530-yopenalex-snapshot
Genomic copy number variation of the CHKB gene alters gene expression and affects growth traits of Chinese domestic yak (Bos grunniens) breeds
inferred← citeshttps://doi.org/10.1007/s00438-020-01679-5openalex-snapshot
Genetic analysis of type 2 tri-allelic pattern at TPOX locus in the Chinese Han population
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