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- Biochemical markers 1
- Biomarkers 1
- Comparative Genomic Hybridization 1
- Cytidine Deaminase 1
- DNA Copy Number Variations 1
- Gene Dosage 1
- Genetic Variation 1
- Genetic disorders 1
- Genetics, Medical 1
- Genetics, Population 1
- Genome, Human 1
- Genome-Wide Association Study 1
- Genomic Structural Variation 1
- Genomics 1
- Medical genetics 1
- Nucleotide sequence 1
- Polymorphism, Genetic 1
- Segmental Duplications, Genomic 1
- Sequence Analysis, DNA 1
- Variation (Biology) 1
- genetics 1
- trends 1
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The future of CNVs sequence based resolution and links to human disease, part 1 of 2 /
Published 2017Table of Contents: “…Contents: Human genetic variation -- "Normal" structural variation -- Copy number polymorphism and disease -- Duplicated sequences: copy number variant (CNV) hotspots -- Structural variation and enriched gene functions -- Array comparative genomic hybridization -- Insufficiency of CNV detection -- Sequence-based resolution of structural variation -- Genome-wide detection of structural variation -- Validated sites of structural variation -- Frequency and length distribution -- APOBEC3B -- Breakpoint heterogeneity -- Detection of novel insertion sequences.…”
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