A copy number variation map of the human genome

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7. Extensive genome heterogeneity leads to preferential allele expression and copy number‐dependent expression in cultivated potato
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8. Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech
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10. Polar bear evolution is marked by rapid changes in gene copy number in response to dietary shift
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11. Cellular effects and clinical implications of SLC2A3 copy number variation
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14. Combining callers improves the detection of copy number variants from whole-genome sequencing
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16. iCopyDAV: Integrated platform for copy number variations—Detection, annotation and visualization
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17. Copy Number Variation: Methods and Clinical Applications
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19. Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome
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20. Different Facets of Copy Number Changes: Permanent, Transient, and Adaptive
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21. Genome-wide copy number variation (CNV) detection in Nelore cattle reveals highly frequent variants in genome regions harboring QTLs affecting production traits
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22. Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome
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23. Copy Number Variants in Alzheimer’s Disease
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24. The genetic architecture of schizophrenia: review of large-scale genetic studies
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25. Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
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27. Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene
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28. A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity
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30. Representing genetic variation with synthetic DNA standards
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31. Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy
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32. Whole-Gene Duplication of PCSK9 as a Novel Genetic Mechanism for Severe Familial Hypercholesterolemia
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34. Amplification editing enables efficient and precise duplication of DNA from short sequence to megabase and chromosomal scale
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35. Pathway-based classification of genetic diseases
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36. Copy number variation in triple negative breast cancer samples associated with lymph node metastasis
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37. Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay
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38. Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans
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39. New quality measure for SNP array based CNV detection
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40. Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects
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41. Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes
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42. Mechanisms of suppression: The wiring of genetic resilience
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43. Population Structure, and Selection Signatures Underlying High-Altitude Adaptation Inferred From Genome-Wide Copy Number Variations in Chinese Indigenous Cattle
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44. Copy number changes of clinically actionable genes in melanoma, non‐small cell lung cancer and colorectal cancer—A survey across 822 routine diagnostic cases
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45. Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low‐pass whole‐genome sequencing
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46. A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome
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47. Diversity and Classification of Genetic Variations in Autism Spectrum Disorder
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48. Resolving complex structural genomic rearrangements using a randomized approach
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49. The variome concept: focus on CNVariome
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50. Genome-Wide Detection of CNVs and Association With Body Weight in Sheep Based on 600K SNP Arrays
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51. Genome annotation: From human genetics to biodiversity genomics
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52. Genetics of Adiposity in Large Animal Models for Human Obesity—Studies on Pigs and Dogs
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53. Copy number variation of CADM2 gene revealed its association with growth traits across Chinese Capra hircus (goat) populations
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54. Role of DNA copy number variation in dyslipidemias
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55. Genes and Pseudogenes: Complexity of the RCCX Locus and Disease
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56. FetalQuantSD: accurate quantification of fetal DNA fraction by shallow-depth sequencing of maternal plasma DNA
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57. Copy number variation contributes to cryptic genetic variation in outbreak lineages of Cryptococcus gattii from the North American Pacific Northwest
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58. Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers
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59. Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
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60. Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders
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61. DNA barcodes from four loci provide poor resolution of taxonomic groups in the genus Crataegus
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64. Gene copy number variations involved in balsam poplar (Populus balsamifera L.) adaptive variations
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65. DNA Copy Number Variations as Markers of Mutagenic Impact
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66. Pan-Cancer Analysis of NOS3 Identifies Its Expression and Clinical Relevance in Gastric Cancer
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67. Pan-genome Analysis in Sorghum Highlights the Extent of Genomic Variation and Sugarcane Aphid Resistance Genes
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68. Clinical significance of germline copy number variation in susceptibility of human diseases
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70. Recent advances and current challenges in population genomics of structural variation in animals and plants
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71. Copy Number Variations in Amyotrophic Lateral Sclerosis: Piecing the Mosaic Tiles Together through a Systems Biology Approach
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72. Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates
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75. Structural Variation Detection from Next Generation Sequencing
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76. A large interactive visual database of copy number variants discovered in taurine cattle
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77. Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?
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78. Evaluation of tools for identifying large copy number variations from ultra-low-coverage whole-genome sequencing data
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80. Whole genome sequencing–based copy number variations reveal novel pathways and targets in Alzheimer's disease
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82. Genome-wide analysis reveals differential selection involved with copy number variation in diverse Chinese Cattle
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83. Split-Read Indel and Structural Variant Calling Using PINDEL
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86. Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility
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87. Extreme copy number variation at a tRNA ligase gene affecting phenology and fitness in yellow monkeyflowers
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88. Perspectives on the Genomics of HSP Beyond Mendelian Inheritance
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89. Sensitive and robust assessment of ChIP-seq read distribution using a strand-shift profile
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90. Rapid screening of copy number variations in STRC by droplet digital PCR in patients with mild-to-moderate hearing loss
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91. Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice
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92. Non‐coding regulatory elements: Potential roles in disease and the case of epilepsy
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93. Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay
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94. Breast cancer genetics in young women: What do we know?
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95. Genome-wide association analysis identifies common variants influencing infant brain volumes
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96. Implications of germline copy-number variations in psychiatric disorders: review of large-scale genetic studies
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97. The “Golden Age” of Behavior Genetics?
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98. Progress in Methods for Copy Number Variation Profiling
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99. Genome-wide mapping of large deletions and their population-genetic properties in dairy cattle
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100. Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families
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