Lecture 18

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Clinical Genomics

Clinical Genomics is the application of genome information to our understanding of human disease. (Do not confuse with Clinical Genetics - i.e. gentic counseling).

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(*) see Redon et al. (2006) Nature 444:444-454

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All integrated bioinformatics resources cross reference SNP information. It is often quite a challenge to wade through the large amounts of information that are being offered. Example: BRCA-2 gene

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Example: BRCA-2 gene in ensembl (note: SNPs only displayed for <50 kb long regions)

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Example: BRCA-2 gene - SNP from search results for NP_000050 in dbSNP

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As in so many examples we have looked at: the future lies in the intelligent integration of evidence.