TY - ADVS AU - Eichler,Evan TI - The future of CNVs: sequence based resolution and links to human disease, (part 2 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 - Human genetics KW - Medical genetics KW - Nucleotide sequence. KW - Variation (Biology) KW - Biomarkers KW - Chromosome Inversion KW - Chromosomes, Human, Pair 17 KW - genetics KW - DNA Copy Number Variations KW - Gene Dosage KW - Genetic Variation KW - Genetics, Medical KW - Genome, Human KW - Genomics KW - trends KW - Genotyping Techniques KW - High-Throughput Nucleotide Sequencing KW - Molecular Sequence Data KW - Sequence Analysis, DNA KW - methods KW - Sequence Deletion KW - Sequence Inversion N1 - Animated audio-visual presentation with synchronized narration; Title from title frames; Contents: Future discovery of CNVs -- Genotyping -- Inversion and deletion -- 17q21.31 targeted sequencing -- Application of next-generation sequencing technology -- Personalized duplication or CNV map -- Long read sequencing technology -- Single-molecule, real-time detection of structural variation (SMRT-SV) -- Full-spectrum of human genetic variation; Access restricted to subscribers UR - https://hstalks.com/bs/3466/ UR - https://hstalks.com/bs/p/439/ UR - https://hstalks.com/bs/p/666/ ER -