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Polymorphisms – SNP, InDel, Transposon BMI/IBGP 730

Polymorphisms – SNP, InDel, Transposon BMI/IBGP 730. Victor Jin, Ph.D. (Slides from Dr. Kun Huang) Department of Biomedical Informatics Ohio State University. http://www.sanger.ac.uk/HGP/draft2000/gfx/fig2.gif. The value of sequenced genome lies in the annotation. Gene discovery

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Polymorphisms – SNP, InDel, Transposon BMI/IBGP 730

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  1. Polymorphisms – SNP, InDel, TransposonBMI/IBGP 730 Victor Jin, Ph.D. (Slides from Dr. Kun Huang) Department of Biomedical Informatics Ohio State University

  2. http://www.sanger.ac.uk/HGP/draft2000/gfx/fig2.gif

  3. The value of sequenced genome lies in the annotation. • Gene discovery • Polymorphism • TSS • CpG region • ncRNA • TF binding sites • Annotation projects: • HAVANA (Sanger Inst.) • ENCODE • CCDS http://www.sanger.ac.uk/HGP/havana/

  4. Polymorphisms • Single Nucleotide Polymorphism (SNP) • SNP projects • SNP array • Sequencing • Other Polymorphisms • Copy Number / LOH • Database Search

  5. Polymorphisms get lots of press

  6. Genetic Variations • Mutation • Allele • SNP • In-Del • Transposon • Aneuploidy • …

  7. Polymorphisms • Single Nucleotide Polymorphism (SNP) • SNP projects • SNP array • Sequencing • Other Polymorphisms • Copy Number / LOH • Database Search

  8. Single Nucleotide Polymorphism The single nucleotide polymorphism (SNP) [pronounced "snip"] is the most common form of genetic variation. As the name suggests, each SNP is a difference in a single nucleotide (A,T,C,or G) of an individual's DNA sequence, such as having AAGG instead of ATGG. There may be from 1 to 10 million SNPs in the entire human genome, but perhaps only a few thousand relate to disease outcomes. The numbers seem to change with every news report. At least 1% of a population has a different nucleotide There are many other classes of variants and these are no less important (e.g., deletions and duplications), SNP are simply the most abundant. First SNPs - RFLPs – D. Botstein - 1980

  9. Questions: • How are SNP useful to biomedical sciences? • How can bioinformatics help us use SNP?

  10. Critical SNP concepts Marker SNP vs. Functional SNP SNPs highlights the spots for search (features, region of interest). SNP patterns from a target population can be compared with SNP patterns from unaffected populations to find genetic variations shared only by the affected group. The most useful SNPs are known as "functional SNPs." A single functional SNP or certain combinations of functional SNPs may help explain variability in individual responses to a given drug or pinpoint the subtle genetic differences that predispose some to diseases such as arthritis, Alzheimer's, cancer, diabetes, and depression.

  11. Critical SNP concepts • Understand evolution • DNA fingerprinting – forensic applications • Markers for polygenetic traits • Genotype-specific medicine (personalized medicine)

  12. Critical SNP concepts 1. Humans are diploid and exhibit significant heterogeneity and heterozygosity 3. DNA is essentially identical in every cell 4. The closer two SNP are the less likely they are to have segregated in a population (linkage disequilibrium) 5. Multiple variants/alleles can be combined into haplotypes (polygenic markers – quantitative trait loci or QTL)

  13. Why SNP gets so much attention? Pharmcogenomics • Personalized medicine

  14. HapMap • The International HapMap Project is a multi-country effort to identify and catalog genetic similarities and differences in human beings. Six participating countries: Japan, the United Kingdom, Canada, China, Nigeria, and the United States. • The goal is to compare the genetic sequences of different individuals to identify chromosomal regions where genetic variants are shared. • Data generated by the Project can be downloaded with minimal constraints. • http://www.hapmap.org/index.html.en

  15. NCBI SNP

  16. SNP Array Affymetrix SNP 6.0 array • More than 906,600 SNPs: • Unbiased selection of 482,000 SNPs; historical SNPs from the SNP Array 5.0 • Selection of additional 424,000 SNPs • Tag SNPs • SNPs from chromosomes X and Y • Mitochondrial SNPs • New SNPs added to the dbSNP database • SNPs in recombination hotspots • More than 946,000 copy number probes

  17. SNP Array Affymetrix SNP 5.0 array

  18. Re-sequencing using massive parallel sequencer $1000 genome project Solexa SOLiD 454

  19. Polymorphisms • Single Nucleotide Polymorphism (SNP) • SNP projects • SNP array • Sequencing • Other Polymorphisms • Copy Number / LOH • Database Search

  20. In-Del • Transposon • Aneuploidy • … Keiko et al, Genome Research 2008

  21. Polymorphisms • Single Nucleotide Polymorphism (SNP) • SNP projects • SNP array • Sequencing • Other Polymorphisms • Copy Number / LOH • Database Search

  22. CGH – Comparative Genomic Hybridization

  23. FISH - Fluorescence in situ Hybridization

  24. FISH - Fluorescence in situ Hybridization

  25. Cytogenetics

  26. Polymorphisms • Single Nucleotide Polymorphism (SNP) • SNP projects • SNP array • Sequencing • Other Polymorphisms • Copy Number / LOH • Database Search

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