The future of CNVs [Elektronisk resurs] : sequence based resolution and links to human disease, (part 2 of 2) / Evan Eichler.

• 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.

Ämnesord

Biochemical markers.  (LCSH)

Human genetics.  (LCSH)

Medical genetics.  (LCSH)

Nucleotide sequence.  (LCSH)

Variation (Biology).  (LCSH)

Biomarkers.  (MeSH)

Chromosome Inversion.  (MeSH)

Chromosomes, Human, Pair 17  -- genetics. (MeSH)

DNA Copy Number Variations.  (MeSH)

Gene Dosage.  (MeSH)

Genetic Variation  -- genetics. (MeSH)

Genetics, Medical.  (MeSH)

Genome, Human.  (MeSH)

Genomics  -- trends. (MeSH)

Genotyping Techniques.  (MeSH)

High-Throughput Nucleotide Sequencing.  (MeSH)

Molecular Sequence Data.  (MeSH)

Sequence Analysis, DNA  -- methods. (MeSH)

Sequence Deletion.  (MeSH)

Sequence Inversion.  (MeSH)