Cancer Genetics RB1 mutation leads to Retinoblastoma. BRCA1 mutation is linked with breast cancer.
The Cancer Genome Atlas Project to catalogue all mutations in cancer (2005). Glioblastoma Ovarian cancer Lung cancerGene Expression ProfilingCopy number variationSNP GenotypingGenome wide DNA methylationMicroRNAExome sequencing
Immunogenetics Genetic link leading to Immune related dis-orders. Father of Immuno Genetics is Edward Jenner. In year 1796 predicted human smallpox can be treated with cowpox. Multiple Sclerosis Type-1 Diabetes Rheumatoid arthritis. Ref: http://www.idi.harvard.edu/uploads/investigators/Immunogenetics- coi.pdf
Human Genome Project NHGRI Solicited RFAs were First pilot sought for Publicati proposal for full on in ENCODE ENCODE 2000 In October GWAS - Finished 90% lies First Report 1990 Human ENCODE paper in outside on Encode Genome coding published 2003 Published inproject started 2005 2012 2007
Genome Mapping What does it mean? Mapping multiple variation of the same gene. HapMap Project: Mapping Haplotype of human genome Genetic variants affecting health Disease and Environme response to ntal Effects drugs
HapMap Project• To study the effect of environment and their effects on diseases.• 99.5% DNA are similar.• 269 individuals genotype.• One million SNPs genotyped – Rose to 10 million including polymorphic sites.http://en.wikipedia.org/wiki/International_HapMap_Project
What we knew• 95% of the genome is “junk”. – 2.94% of the genome is coding• cis regulatory elements occur within a limited genome distance.• Most of the genome is transposable elements that are of obscure origin are dying.• Transcribed elements are most often translated than not.
1000 genomes project Copy Number Variation SNPs Indels http://en.wikipedia.org/wiki/1000_Genomes_ProjectYoruba in Ibadan, Nigeria; Japanese in Tokyo; Chinese in Beijing; Utah residents withancestry from northern and western Europe; Luhya in Webuye, Kenya; Maasai inKinyawa, Kenya; Toscani in Italy; Peruvians in Perú; Gujarati Indians in Houston;Chinese in metropolitan Denver; people of Mexican ancestry in Los Angeles
HapMap Project SNPs occurring at least 1% of the population. If a SNP in one site is known, then the SNP in the nearest site can be identified.