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The future of CNVs sequence based resolution and links to human disease, part 1 of 2

Bibliographic Details
Main Author: Eichler, Evan
Format: eBook
Language:English
Published: London Henry Stewart Talks 2017, 2017
Series:Biomarkers : the path forward to highly sensitive and specific molecular diagnostics
Subjects:
Comparative Genomic Hybridization
Variation (biology)
Cytidine Deaminase / Genetics
Gene Dosage
Genome-wide Association Study
Nucleotide Sequence
Genetic Disorders
Genetics, Population
Segmental Duplications, Genomic / Genetics
Dna Copy Number Variations
Genomics / Trends
Polymorphism, Genetic
Medical Genetics
Genetics, Medical
Genomic Structural Variation
Genetic Variation
Biochemical Markers
Biomarkers
Sequence Analysis, Dna.
Genome, Human
Online Access:
Collection: Henry Stewart Talks - Collection details see MPG.ReNa
Table of 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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