Eichler, Evan,
The future of CNVs sequence based resolution and links to human disease, part 1 of 2 / [electronic resource] : Future of CNVs : sequence based resolution and links to human disease. Part 1 Sequence based resolution and links to human disease 1 Evan Eichler. - London : Henry Stewart Talks, 2017. - 1 online resource (1 streaming video file (38 min.) : color, sound). - Biomarkers : the path forward to highly sensitive and specific molecular diagnostics, 2056-452X Copy number variation : expanding the repertoire of genetic alterations in studies of natural variation and disease, 2056-452X . - Henry Stewart talks. Biomedical & life sciences collection. Biomarkers. Henry Stewart talks. Biomedical & life sciences collection. Copy number variation. .
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.
Mode of access: World Wide Web.
2120 Henry Stewart Talks
Biochemical markers.
Genetic disorders.
Medical genetics.
Nucleotide sequence.
Variation (Biology)
Biomarkers.
Comparative Genomic Hybridization.
Cytidine Deaminase--genetics.
DNA Copy Number Variations.
Gene Dosage.
Genetic Variation.
Genetics, Medical.
Genetics, Population.
Genome, Human.
Genome-Wide Association Study.
Genomic Structural Variation.
Genomics--trends.
Polymorphism, Genetic.
Segmental Duplications, Genomic--genetics.
Sequence Analysis, DNA.
The future of CNVs sequence based resolution and links to human disease, part 1 of 2 / [electronic resource] : Future of CNVs : sequence based resolution and links to human disease. Part 1 Sequence based resolution and links to human disease 1 Evan Eichler. - London : Henry Stewart Talks, 2017. - 1 online resource (1 streaming video file (38 min.) : color, sound). - Biomarkers : the path forward to highly sensitive and specific molecular diagnostics, 2056-452X Copy number variation : expanding the repertoire of genetic alterations in studies of natural variation and disease, 2056-452X . - Henry Stewart talks. Biomedical & life sciences collection. Biomarkers. Henry Stewart talks. Biomedical & life sciences collection. Copy number variation. .
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.
Mode of access: World Wide Web.
2120 Henry Stewart Talks
Biochemical markers.
Genetic disorders.
Medical genetics.
Nucleotide sequence.
Variation (Biology)
Biomarkers.
Comparative Genomic Hybridization.
Cytidine Deaminase--genetics.
DNA Copy Number Variations.
Gene Dosage.
Genetic Variation.
Genetics, Medical.
Genetics, Population.
Genome, Human.
Genome-Wide Association Study.
Genomic Structural Variation.
Genomics--trends.
Polymorphism, Genetic.
Segmental Duplications, Genomic--genetics.
Sequence Analysis, DNA.