TY  - ADVS
AU  - Eichler,Evan
TI  - The future of CNVs: sequence based resolution and links to human disease, part 1 of 2 
T2  - Biomarkers : the path forward to highly sensitive and specific molecular diagnostics,
PY  - 2017///
CY  - London
PB  - Henry Stewart Talks
KW  - Biochemical markers
KW  - Genetic disorders
KW  - Medical genetics
KW  - Nucleotide sequence.
KW  - Variation (Biology)
KW  - Biomarkers
KW  - Comparative Genomic Hybridization
KW  - Cytidine Deaminase
KW  - genetics
KW  - DNA Copy Number Variations
KW  - Gene Dosage
KW  - Genetic Variation
KW  - Genetics, Medical
KW  - Genetics, Population
KW  - Genome, Human
KW  - Genome-Wide Association Study
KW  - Genomic Structural Variation
KW  - Genomics
KW  - trends
KW  - Polymorphism, Genetic
KW  - Segmental Duplications, Genomic
KW  - Sequence Analysis, DNA
N1  - Animated audio-visual presentation with synchronized narration; Title from title frames; Updated version of a talk first published in 2009; 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; Access restricted to subscribers
UR  - https://hstalks.com/bs/1409/
UR  - https://hstalks.com/bs/p/439/
UR  - https://hstalks.com/bs/p/666/
ER  -