Mapping and characterization of structural variation in 17,795 human genomes

Keyphrases

• Human Genome 100%
• Structural Variation 100%
• Structural Variants 100%
• Whole Genome Sequencing 30%
• Ultra-rare 20%
• Coding Region 10%
• Computational Model 10%
• Loss Function 10%
• Deleterious Effects 10%
• Release Site 10%
• Dosage Sensitivity 10%
• Non-coding 10%
• Rare Allele 10%
• Human Genetics 10%
• Gene Elements 10%
• Single nucleotide Variant 10%
• Balanced Rearrangements 10%
• Function Code 10%
• Deletion Variant 10%
• Non-coding Elements 10%
• Insertion or Deletion 10%
• Complex Rearrangement 10%
• Site Frequency 10%

Biochemistry, Genetics and Molecular Biology

• Allele 100%
• Whole Genome Sequencing 100%
• Human Genome 100%
• Single-Nucleotide Polymorphism 33%
• Coding Region 33%
• Human Genetics 33%