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Human Molecular Genetics 2 15. Identifying human disease genes 15.1. Principles and strategies in identifying disease genes



Figure 15.1. How to identify a human disease gene. There is no single pathway to success, but the key step is to arrive at a plausible candidate gene, which can then be tested for mutations in affected people. Note the interplay between clinical work, laboratory benchwork and computer analysis. Database searching is becoming more and more crucial as information from genome projects accumulates.

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