Genetic counseling: preconception, prenatal, perinatal
42 min
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37 min
1. Copy number variation- Prof. Steve Scherer
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17 min
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32 min
3. CNVs in human genomes- Prof. Chris Ponting
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32 min
4. Gene copy number variation in human and primate evolution- Prof. James Sikela
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64 min
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44 min
6. CNVs and clinical diagnosis- Dr. Brynn Levy
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43 min
7. Quantitative CNV testing in molecular diagnostics- Prof. Dimitri J. Stavropoulos
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33 min
8. Mendelian CNV mutations- Prof. Joris Vermeesch
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40 min
9. Copy number variation in neuropsychiatric disorders- Dr. Christian Marshall
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41 min
10. Copy number variation in association studies of human disease- Dr. Steven McCarroll
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21 min
11. Ethical considerations in dealing with CNV information- Dr. Holly Tabor
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38 min
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31 min
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31 min
- Archived Lectures *These may not cover the latest advances in the field
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26 min
15. Population genetics of structural variation- Dr. Don Conrad
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47 min
16. Databases for CNV in control and disease populations- Dr. Lars Feuk
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45 min
17. Copy number variation in mental retardation- Dr. Joris Veltman
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35 min
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34 min
19. Structural variants and susceptibility to common human disorders- Prof. Xavier Estivill
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40 min
20. Indels, CNVs and the spectrum of human genome variation- Prof. Samuel Levy
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36 min
21. Genome structure and expression- Prof. Alexandre Reymond
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39 min
22. Quantitative CNV testing in molecular diagnostics- Prof. Martin Somerville
Printable Handouts
Navigable Slide Index
- Introduction
- Long term goals for genotype-phenotype studies
- Reference article
- Overview
- De novo genome assembly (1)
- De novo genome assembly (2)
- HuRef compared to other human assemblies
- HuRef vs. NCBI
- Celera assembler
- The variants detected
- The filtering approach
- Identification of a comprehensive HuRef variant set
- SNP in HuRef assembly
- Detecting allelic contributions for SNP and indels
- How do variants impact coding sequence?
- Measure of nucleotide diversity
- Characterization of indels
- Homozygous insertions and deletions
- Zinc finger protein truncated by 467 bp insertion
- Analysis of insertions and deletions
- CNVs and read depth coverage
- Characterization of novel HuRef sequences
- Building long range haplotypes
- Haplotype assembly
- Increasing HuRef coverage with ABI SOLiD data
- 2 assembly approaches employing additional data
- Mapping and pairing of reads from ABI-SOLiD runs
- Improving accuracy of SNP detection
- SNPs are missed due to reasons of coverage
- Mapping parameters are important for accuracy
- Identifying large insertions
- Small length mate-pairs confirm known insertions
- Concluding remarks
- Contributions (1)
- Contributions (2)
Topics Covered
- Long term goals for human genotype-phenotype studies
- De novo assembly of an individual genome sequence
- How does HuRef compare to other human assemblies?
- SNP in HuRef assembly
- How do variants impact coding sequence?
- Nucleotide diversity
- Homozygous insertions and deletions: identification and validation
- CNVs and read depth coverage
- Construction of haplotypes and diploid representation
- Additional sequencing to provide complete genome assembly through detection of indels/CNV
Talk Citation
Levy, S. (2009, August 30). Indels, CNVs and the spectrum of human genome variation [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved August 31, 2024, from https://doi.org/10.69645/OHRF7802.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Samuel Levy has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
