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Segmental Duplications: Organization and Impact Within the Current Human Genome Project Assembly
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1006/geno.1996.0113openalex-snapshot
Localization ofChl1-Related Helicase Genes to Human Chromosome Regions 12p11 and 12p13: Similarity between Parts of These Genes and Conserved Human Telomeric-Associated DNA
inferredcites →https://doi.org/10.1006/geno.1998.5358openalex-snapshot
Recent Human-Specific Spreading of a Subtelomeric Domain
inferredcites →https://doi.org/10.1006/geno.1999.5927openalex-snapshot
Genome Duplications and Other Features in 12 Mb of DNA Sequence from Human Chromosome 16p and 16q
inferredcites →https://doi.org/10.1016/0168-9525(90)90302-mopenalex-snapshot
Centromeres of mammalian chromosomes
inferredcites →https://doi.org/10.1016/0888-7543(90)90544-5openalex-snapshot
A novel human DNA polymorphism resulting from transfer of DNA from chromosome 6 to chromosome 16
inferredcites →https://doi.org/10.1016/s0378-1119(97)00477-0openalex-snapshot
Duplication and distribution of repetitive elements and non-unique regions in the human genome
inferredcites →https://doi.org/10.1023/a:1009223327818openalex-snapshot
Conservation of Human Gamma-X Centromeric Satellite DNA Among Primates with an Autosomal Localization in Certain Old World monkeys
inferredcites →https://doi.org/10.1038/35012518openalex-snapshot
The DNA sequence of human chromosome 21
inferredcites →https://doi.org/10.1038/35057062openalex-snapshot
Initial sequencing and analysis of the human genome
inferredcites →https://doi.org/10.1038/35057165openalex-snapshot
The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X
inferredcites →https://doi.org/10.1038/35057192openalex-snapshot
Integration of cytogenetic landmarks into the draft sequence of the human genome
inferredcites →https://doi.org/10.1038/366265a0openalex-snapshot
Characterization of the pufferfish (Fugu) genome as a compact model vertebrate genome
inferredcites →https://doi.org/10.1038/990031openalex-snapshot
The DNA sequence of human chromosome 22
inferredcites →https://doi.org/10.1038/ng1097-154openalex-snapshot
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
inferredcites →https://doi.org/10.1073/pnas.94.21.11461openalex-snapshot
Fluorescence in situ hybridization analysis of keratinocyte growth factor gene amplification and dispersion in evolution of great apes and humans
inferredcites →https://doi.org/10.1086/302343openalex-snapshot
Low-Copy Repeats Mediate the Common 3-Mb Deletion in Patients with Velo-cardio-facial Syndrome
inferredcites →https://doi.org/10.1086/302510openalex-snapshot
Chromosome Breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal Breakpoints
inferredcites →https://doi.org/10.1093/bioinformatics/11.6.615openalex-snapshot
Miropeats: graphical DNA sequence comparisons
inferredcites →https://doi.org/10.1093/bioinformatics/4.1.11openalex-snapshot
Optimal alignments in linear space
inferredcites →https://doi.org/10.1093/hmg/3.6.853openalex-snapshot
Human immunoglobulin VH and D segments on chromosomes 15q11.2 and 16p11.2
inferredcites →https://doi.org/10.1093/hmg/5.7.899openalex-snapshot
Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution
inferredcites →https://doi.org/10.1093/hmg/6.1.9openalex-snapshot
Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition
inferredcites →https://doi.org/10.1093/hmg/6.7.991openalex-snapshot
Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity
inferredcites →https://doi.org/10.1093/hmg/7.1.13openalex-snapshot
Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes
inferredcites →https://doi.org/10.1093/hmg/7.13.2007openalex-snapshot
Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome
inferredcites →https://doi.org/10.1093/hmg/8.2.151openalex-snapshot
Repetitive conundrums of centromere structure and function
inferredcites →https://doi.org/10.1093/hmg/8.2.205openalex-snapshot
Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations
inferredcites →https://doi.org/10.1093/hmg/8.3.533openalex-snapshot
The ancestral gene for transcribed, low-copy repeats in the Prader- Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities
inferredcites →https://doi.org/10.1093/hmg/8.6.1025openalex-snapshot
Large genomic duplicons map to sites of instability in the Prader- Willi/Angelman syndrome chromosome region (15q11-q13)
inferredcites →https://doi.org/10.1093/hmg/9.1.113openalex-snapshot
Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11
inferredcites →https://doi.org/10.1093/hmg/9.4.489openalex-snapshot
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis
inferredcites →https://doi.org/10.1093/nar/25.17.3389openalex-snapshot
Gapped BLAST and PSI-BLAST: a new generation of protein database search programs
inferredcites →https://doi.org/10.1101/gr.10.5.597openalex-snapshot
Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders
inferredcites →https://doi.org/10.1101/gr.10.6.839openalex-snapshot
The Mosaic Structure of Human Pericentromeric DNA: A Strategy for Characterizing Complex Regions of the Human Genome
inferredcites →https://doi.org/10.1101/gr.8.10.1007openalex-snapshot
Pathological Consequences of Sequence Duplications in the Human Genome
inferredcites →https://doi.org/10.1101/gr.8.8.758openalex-snapshot
Masquerading Repeats: Paralogous Pitfalls of the Human Genome
inferredcites →https://doi.org/10.1101/gr.9.11.1048openalex-snapshot
CAGGG Repeats and the Pericentromeric Duplication of the Hominoid Genome
inferredcites →https://doi.org/10.1126/science.282.5389.682openalex-snapshot
New Goals for the U.S. Human Genome Project: 1998-2003
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
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Using Machine Learning to Predict Noncoding Variant Associations with Sulcal Patterns in Congenital Heart Disease
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Accessing the Human Genome
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Segmental Duplications and CNVs
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Interphase FISH screening for the LCR-mediated common rearrangement of isochromosome 17q in primary myelofibrosis
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Repair and Reconstruction of Telomeric and Subtelomeric Regions and Genesis of New Telomeres: Implications for Chromosome Evolution
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Duplication and divergence in humans and chimpanzees
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Early‐onset triple‐negative breast cancer in multiracial/ethnic populations: Distinct trends of prevalence of truncation mutations
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Molecular cytogenetic analysis of genomic instability at the 1q12–22 chromosomal site in B‐cell non‐Hodgkin lymphoma
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Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse
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Profiling genomic copy number changes in retinoblastoma beyond loss of RB1
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Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray
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Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney
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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
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Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis
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Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
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Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses
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Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome
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Elucidation of de novo small insertion/deletion biology with parent‐of‐origin phasing
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Identification of the human/mouse syntenic common fragile site FRA7K/Fra12C1—Relation of FRA7K and other human common fragile sites on chromosome 7 to evolutionary breakpoints
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Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders
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A De Novo 16p13.3 Triplication Underlying Early‐Onset Complex Neurodegeneration
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Dominance and gene dosage balance in health and disease: why levels matter!
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Advanced techniques for gene heterogeneity research: Single‐cell sequencing and on‐chip gene analysis systems
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The Apolipoprotein L Gene Cluster Has Emerged Recently in Evolution and Is Expressed in Human Vascular Tissue
inferred← citeshttps://doi.org/10.1006/geno.2002.6765openalex-snapshot
An Evaluation of the Assembly of an Approximately 15-Mb Region on Human Chromosome 13q32–q33 Linked to Bipolar Disorder and Schizophrenia
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Sequencing by Aligning Mutated DNA Fragments (SAM)
inferred← citeshttps://doi.org/10.1007/3-540-45452-7_21openalex-snapshot
Statistical Identification of Uniformly Mutated Segments within Repeats
inferred← citeshttps://doi.org/10.1007/3-540-45452-7_22openalex-snapshot
Simple and Practical Sequence Nearest Neighbors with Block Operations
inferred← citeshttps://doi.org/10.1007/978-1-0716-2561-3_23openalex-snapshot
Sequencing and Assembly of Polyploid Genomes
inferred← citeshttps://doi.org/10.1007/978-1-4939-6442-0_8openalex-snapshot
Analysis of Copy Number Variation Using the Paralogue Ratio Test (PRT)
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Monosomy 1p36 As a Model for the Molecular Basis of Terminal Deletions
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Strategies and Resources for Marker Selection and Genotyping in Genetic Association Studies
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ChIP-Chip: Algorithms for Calling Binding Sites
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A Short Primer on the Functional Analysis of Copy Number Variation for Biomedical Scientists
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What Have Studies of Genomic Disorders Taught Us About Our Genome?
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Detection and Interpretation of Genomic Structural Variation in Mammals
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Microdeletion and Microduplication Syndromes
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Identification and Analysis of Genomic Homing Endonuclease Target Sites
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Mental Retardation and Intellectual Disability
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Birth of ‘human-specific’ genes during primate evolution
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The genomic basis of the Williams – Beuren syndrome
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A Novel Strategy for Analysis of Gene Homologues and Segmental Genome Duplications
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Detection of New Transposable Element Families in Drosophila melanogaster and Anopheles gambiae Genomes
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Evolution of the “OR37” Subfamily of Olfactory Receptors: A Cross-Species Comparison
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An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health
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Modeling human disease in rodents by CRISPR/Cas9 genome editing
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Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization
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FISH analysis of hematological neoplasias with 1p36 rearrangements allows the definition of a cluster of 2.5�Mb included in the minimal region deleted in 1p36 deletion syndrome
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Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes
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Analysis of segmental duplications reveals a distinct pattern of continuation-of-synteny between human and mouse genomes
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Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies
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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease
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Resolving misalignment interference for NGS-based clinical diagnostics
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Copy number variation in the cattle genome
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Long-read sequencing reveals novel genetic polymorphisms in the major histocompatibility complex region and their impacts on the Han Chinese population
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The genetics of childhood-onset schizophrenia: When madness strikes the prepubescent
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Genomewide analysis of sperm whale E2 ubiquitin conjugating enzyme genes
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Comparative genome analysis of Tilletia indica inciting Karnal bunt of wheat reveals high genomic variation
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Detection of Genomic Duplications and Deletions
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Genetics, mechanism, and pathophysiology of 22q11.2 deletion syndrome
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Genetic and Genomic Testing
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Genomic basis of human-specific brain features
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Genetic Effects and Risk Estimation
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Extensive Copy-Number Variation of the Human Olfactory Receptor Gene Family
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A Definitive Haplotype Map as Determined by Genotyping Duplicated Haploid Genomes Finds a Predominant Haplotype Preference at Copy-Number Variation Events
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A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans
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Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing
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Complete Haplotype Sequence of the Human Immunoglobulin Heavy-Chain Variable, Diversity, and Joining Genes and Characterization of Allelic and Copy-Number Variation
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RETRACTED: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements
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Phenome-wide Burden of Copy-Number Variation in the UK Biobank
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De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families
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The pleiotropic spectrum of proximal 16p11.2 CNVs
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Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort
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Long-range massively parallel mate pair sequencing detects distinct mutations and similar patterns of structural mutability in two breast cancer cell lines
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Inverted duplication dup(1)(q32q21) as sole aberration in lymphoid and myeloid malignancies
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Genomic and Transcriptomic Determinants of Therapy Resistance and Immune Landscape Evolution during Anti-EGFR Treatment in Colorectal Cancer
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Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis
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Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication
inferred← citeshttps://doi.org/10.1016/j.celrep.2025.115644openalex-snapshot
How repeats rearrange chromosomes: The molecular basis of chromosomal inversions in deer mice
inferred← citeshttps://doi.org/10.1016/j.compbiolchem.2012.11.002openalex-snapshot
Analysis of compensatory substitution and gene evolution on the MAGEA/CSAG-palindrome of the primate X chromosomes
inferred← citeshttps://doi.org/10.1016/j.compbiolchem.2014.08.015openalex-snapshot
Characterizing regions in the human genome unmappable by next-generation-sequencing at the read length of 1000 bases
inferred← citeshttps://doi.org/10.1016/j.cviu.2017.10.003openalex-snapshot
Vide-omics: A genomics-inspired paradigm for video analysis
inferred← citeshttps://doi.org/10.1016/j.ejmg.2005.04.012openalex-snapshot
Narrowing the deleted region associated with the 15q21 syndrome
inferred← citeshttps://doi.org/10.1016/j.ejmg.2006.11.001openalex-snapshot
Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype–phenotype correlation
inferred← citeshttps://doi.org/10.1016/j.forsciint.2003.11.035openalex-snapshot
Duplications of the Y-chromosome specific loci P25 and 92R7 and forensic implications
inferred← citeshttps://doi.org/10.1016/j.gde.2003.10.011openalex-snapshot
Duplicate, decouple, disperse: the evolutionary transience of human centromeric regions
inferred← citeshttps://doi.org/10.1016/j.gde.2004.08.008openalex-snapshot
Evolutionary impact of human Alu repetitive elements
inferred← citeshttps://doi.org/10.1016/j.gde.2016.08.001openalex-snapshot
Human adaptation and evolution by segmental duplication
inferred← citeshttps://doi.org/10.1016/j.gene.2004.03.028openalex-snapshot
Gene relics in the genome of the yeast Saccharomyces cerevisiae
inferred← citeshttps://doi.org/10.1016/j.gene.2011.05.027openalex-snapshot
Genome structure analysis of molluscs revealed whole genome duplication and lineage specific repeat variation
inferred← citeshttps://doi.org/10.1016/j.gene.2014.09.044openalex-snapshot
Rapid detection of Down's syndrome using quantitative real-time PCR (qPCR) targeting segmental duplications on chromosomes 21 and 11
inferred← citeshttps://doi.org/10.1016/j.gene.2022.146997openalex-snapshot
A partial duplication of an X-linked gene exclusive of a primate lineage (Macaca)
inferred← citeshttps://doi.org/10.1016/j.gpb.2018.07.006openalex-snapshot
SeqSQC: A Bioconductor Package for Evaluating the Sample Quality of Next-Generation Sequencing Data
inferred← citeshttps://doi.org/10.1016/j.ijporl.2012.07.029openalex-snapshot
Rearrangement in 22q11 implicated in Iranian patients with mental retardation
inferred← citeshttps://doi.org/10.1016/j.isci.2024.111707openalex-snapshot
Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact
inferred← citeshttps://doi.org/10.1016/j.jgg.2021.02.004openalex-snapshot
Interplay between genome organization and epigenomic alterations of pericentromeric DNA in cancer
inferred← citeshttps://doi.org/10.1016/j.jmb.2004.05.036openalex-snapshot
Clustering of Protein Domains in the Human Genome
inferred← citeshttps://doi.org/10.1016/j.jmb.2010.07.011openalex-snapshot
Nebulin: A Study of Protein Repeat Evolution
inferred← citeshttps://doi.org/10.1016/j.jmoldx.2021.01.015openalex-snapshot
Intronic Breakpoint Signatures Enhance Detection and Characterization of Clinically Relevant Germline Structural Variants
inferred← citeshttps://doi.org/10.1016/j.molp.2021.06.017openalex-snapshot
Gapless indica rice genome reveals synergistic contributions of active transposable elements and segmental duplications to rice genome evolution
inferred← citeshttps://doi.org/10.1016/j.mrfmmm.2005.06.020openalex-snapshot
Ionizing radiation and genetic risks
inferred← citeshttps://doi.org/10.1016/j.mrfmmm.2013.03.009openalex-snapshot
Functional analysis—Make or break for cancer predictability
inferred← citeshttps://doi.org/10.1016/j.mrfmmm.2021.111773openalex-snapshot
Distribution of copy number variations and rearrangement endpoints in human cancers with a review of literature
inferred← citeshttps://doi.org/10.1016/j.neuron.2006.09.027openalex-snapshot
Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders
inferred← citeshttps://doi.org/10.1016/j.repbio.2015.02.002openalex-snapshot
Rapid and simultaneous screening of 47,XXY and AZF microdeletions by quadruplex real-time polymerase chain reaction
inferred← citeshttps://doi.org/10.1016/j.semcdb.2011.07.010openalex-snapshot
The consequences of structural genomic alterations in humans: Genomic Disorders, genomic instability and cancer
inferred← citeshttps://doi.org/10.1016/j.tig.2004.08.008openalex-snapshot
Analysis of the centromeric regions of the human genome assembly
inferred← citeshttps://doi.org/10.1016/j.tig.2005.08.004openalex-snapshot
Timing and mechanism of ancient vertebrate genome duplications – the adventure of a hypothesis
inferred← citeshttps://doi.org/10.1016/j.tig.2009.08.002openalex-snapshot
The origins and impact of primate segmental duplications
inferred← citeshttps://doi.org/10.1016/j.tig.2011.10.002openalex-snapshot
Characterizing complex structural variation in germline and somatic genomes
inferred← citeshttps://doi.org/10.1016/j.tig.2013.07.002openalex-snapshot
The role of gene conversion in preserving rearrangement hotspots in the human genome
inferred← citeshttps://doi.org/10.1016/j.tma.2025.02.001openalex-snapshot
Multi-ancestry GWAS reveals loci linked to human variation in LINE-1- and Alu-insertion numbers
inferred← citeshttps://doi.org/10.1016/j.xcrm.2023.101155openalex-snapshot
Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease
inferred← citeshttps://doi.org/10.1016/j.xgen.2022.100129openalex-snapshot
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions
inferred← citeshttps://doi.org/10.1016/j.xgen.2023.100291openalex-snapshot
Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements
inferred← citeshttps://doi.org/10.1016/j.xgen.2024.100588openalex-snapshot
Neotelomeres and telomere-spanning chromosomal arm fusions in cancer genomes revealed by long-read sequencing
inferred← citeshttps://doi.org/10.1016/j.xgen.2025.100808openalex-snapshot
Centromeric transposable elements and epigenetic status drive karyotypic variation in the eastern hoolock gibbon
inferred← citeshttps://doi.org/10.1016/j.xhgg.2024.100396openalex-snapshot
Genome-wide maps of highly-similar intrachromosomal repeats that can mediate ectopic recombination in three human genome assemblies
inferred← citeshttps://doi.org/10.1016/j.ygeno.2003.08.003openalex-snapshot
Characterization of the segmental duplication LCR7-20 in the human genome
inferred← citeshttps://doi.org/10.1016/j.ygeno.2003.08.012openalex-snapshot
Plasticity of human chromosome 3 during primate evolution
inferred← citeshttps://doi.org/10.1016/j.ygeno.2003.12.009openalex-snapshot
Detailed four-way comparative mapping and gene order analysis of the canine ctvm locus reveals evolutionary chromosome rearrangements
inferred← citeshttps://doi.org/10.1016/j.ygeno.2004.01.009openalex-snapshot
Taxon-specific evolution of glandular kallikrein genes and identification of a progenitor of prostate-specific antigen
inferred← citeshttps://doi.org/10.1016/j.ygeno.2004.03.001openalex-snapshot
Diverse fates of paralogs following segmental duplication of telomeric genes☆☆☆
inferred← citeshttps://doi.org/10.1016/j.ygeno.2004.03.006openalex-snapshot
Genomic organization and evolution of the NF1 microdeletion region☆
inferred← citeshttps://doi.org/10.1016/j.ygeno.2004.10.007openalex-snapshot
Comparative cytogenetics of human chromosome 3q21.3 reveals a hot spot for ectopic recombination in hominoid evolution
inferred← citeshttps://doi.org/10.1016/j.ygeno.2005.04.003openalex-snapshot
Evolutionarily plastic regions at human 3p21.3 coincide with tumor breakpoints identified by the “elimination test”
inferred← citeshttps://doi.org/10.1016/j.ygeno.2005.08.008openalex-snapshot
Murine segmental duplications are hot spots for chromosome and gene evolution
inferred← citeshttps://doi.org/10.1016/j.ygeno.2006.03.005openalex-snapshot
Copy number polymorphisms are not a common feature of innate immune genes
inferred← citeshttps://doi.org/10.1016/j.ygeno.2006.03.016openalex-snapshot
Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH
inferred← citeshttps://doi.org/10.1016/j.ygeno.2010.02.003openalex-snapshot
Identification of human specific gene duplications relative to other primates by array CGH and quantitative PCR
inferred← citeshttps://doi.org/10.1016/j.ygeno.2015.01.009openalex-snapshot
ICRmax: An optimized approach to detect tumor-specific interchromosomal rearrangements for clinical application
inferred← citeshttps://doi.org/10.1016/s0027-5107(00)00106-8openalex-snapshot
Ionizing radiation and genetic risks
inferred← citeshttps://doi.org/10.1016/s0065-2458(03)60006-9openalex-snapshot
Shotgun Sequence Assembly
inferred← citeshttps://doi.org/10.1016/s0091-679x(04)75032-3openalex-snapshot
Detecting Copy Number Changes in Genomic DNA: MAPH and MLPA
inferred← citeshttps://doi.org/10.1016/s0168-6445(03)00070-6openalex-snapshot
Exploiting the yeastSaccharomyces cerevisiaefor the study of the organization and evolution of complex genomes
inferred← citeshttps://doi.org/10.1016/s0168-9525(01)02492-1openalex-snapshot
Recent duplication, domain accretion and the dynamic mutation of the human genome
inferred← citeshttps://doi.org/10.1016/s0168-9525(02)02592-1openalex-snapshot
Genome architecture, rearrangements and genomic disorders
inferred← citeshttps://doi.org/10.1016/s0378-1119(02)00858-2openalex-snapshot
Human genome dispersal and evolution of 4q35 duplications and interspersed LSau repeats
inferred← citeshttps://doi.org/10.1016/s0378-1119(03)00704-2openalex-snapshot
The major shifts of human duplicated genes
inferred← citeshttps://doi.org/10.1016/s0378-1119(03)00825-4openalex-snapshot
Barnacle: an assembly algorithm for clone-based sequences of whole genomes
inferred← citeshttps://doi.org/10.1016/s0888-7543(03)00025-9openalex-snapshot
BAGE genes generated by juxtacentromeric reshuffling in the hominidae lineage are under selective pressure
inferred← citeshttps://doi.org/10.1016/s0959-437x(02)00304-0openalex-snapshot
Molecular-evolutionary mechanisms for genomic disorders
inferred← citeshttps://doi.org/10.1021/acssynbio.2c00424openalex-snapshot
Structural Variations and Adaptations of Synthetic Chromosome Ends Driven by SCRaMbLE in Haploid and Diploid Yeasts
inferred← citeshttps://doi.org/10.1021/cr0683008openalex-snapshot
Genome Assembly, Rearrangement, and Repeats
inferred← citeshttps://doi.org/10.1023/a:1023333302552openalex-snapshot
Segmental Duplications in the Human Genome
inferred← citeshttps://doi.org/10.1023/a:1023337403460openalex-snapshot
Tandem and Interspersed Repeats Contribute to the Mosaic Structure of Segmental Duplications in the Human Genome
inferred← citeshttps://doi.org/10.1023/a:1023385319390openalex-snapshot
Segmental Duplications in Subtelomeric Regions of Human Chromosome 13
inferred← citeshttps://doi.org/10.1023/a:1024157714736openalex-snapshot
Birth of ‘Human-Specific’ Genes During Primate Evolution
inferred← citeshttps://doi.org/10.1023/a:1024957002755openalex-snapshot
Reconstruction of the ancestral karyotype of eutherian mammals
inferred← citeshttps://doi.org/10.1038/35097067openalex-snapshot
Positive selection of a gene family during the emergence of humans and African apes
inferred← citeshttps://doi.org/10.1038/35098574openalex-snapshot
Chromosomal microdeletions: dissecting del22q11 syndrome
inferred← citeshttps://doi.org/10.1038/414865aopenalex-snapshot
The DNA sequence and comparative analysis of human chromosome 20
inferred← citeshttps://doi.org/10.1038/gene.2014.56openalex-snapshot
Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity
inferred← citeshttps://doi.org/10.1038/hgv.2015.65openalex-snapshot
A catalog of hemizygous variation in 127 22q11 deletion patients
inferred← citeshttps://doi.org/10.1038/nature01348openalex-snapshot
The DNA sequence and analysis of human chromosome 14
inferred← citeshttps://doi.org/10.1038/nature02399openalex-snapshot
The DNA sequence and biology of human chromosome 19
inferred← citeshttps://doi.org/10.1038/nature02426openalex-snapshot
Genome sequence of the Brown Norway rat yields insights into mammalian evolution
inferred← citeshttps://doi.org/10.1038/nature02465openalex-snapshot
DNA sequence and analysis of human chromosome 9
inferred← citeshttps://doi.org/10.1038/nature02806openalex-snapshot
The structure and evolution of centromeric transition regions within the human genome
inferred← citeshttps://doi.org/10.1038/nature02919openalex-snapshot
The DNA sequence and comparative analysis of human chromosome 5
inferred← citeshttps://doi.org/10.1038/nature03062openalex-snapshot
Shotgun sequence assembly and recent segmental duplications within the human genome
inferred← citeshttps://doi.org/10.1038/nature03187openalex-snapshot
The sequence and analysis of duplication-rich human chromosome 16
inferred← citeshttps://doi.org/10.1038/nature04000openalex-snapshot
A genome-wide comparison of recent chimpanzee and human segmental duplications
inferred← citeshttps://doi.org/10.1038/nature04029openalex-snapshot
Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication
inferred← citeshttps://doi.org/10.1038/nature04569openalex-snapshot
The finished DNA sequence of human chromosome 12
inferred← citeshttps://doi.org/10.1038/nature04601openalex-snapshot
Analysis of the DNA sequence and duplication history of human chromosome 15
inferred← citeshttps://doi.org/10.1038/nature04689openalex-snapshot
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage
inferred← citeshttps://doi.org/10.1038/ng.193openalex-snapshot
Evolutionary toggling of the MAPT 17q21.31 inversion region
inferred← citeshttps://doi.org/10.1038/ng.2007.9openalex-snapshot
Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution
inferred← citeshttps://doi.org/10.1038/ng.2565openalex-snapshot
Using population admixture to help complete maps of the human genome
inferred← citeshttps://doi.org/10.1038/ng.2588openalex-snapshot
Peregrine and saker falcon genome sequences provide insights into evolution of a predatory lifestyle
inferred← citeshttps://doi.org/10.1038/ng.3042openalex-snapshot
The common marmoset genome provides insight into primate biology and evolution
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