User:Patel.ravip/Phylomedicine

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File:HumanSharedGenes.jpg

A venn diagram illustrating shared gene families among humans and their closest related ancestors, and a depiction of the evolutionary history of humans and other closely related mammals.

Phylomedicine is a discipline that strives to further our understanding of human disease and health by utilizing genomic data from all parts of the tree of life. By studying the patterns of long and short term evolutionary conservation of structure and function of protein among all known biotic taxa, phylomedicine aims to predict the functional impact of human genetic variation. With an increasing number of full genomes becoming available as a result of the decreasing cost of whole genome sequencing, phylomedicine is expanding the reach of evolutionary medicine at the intersection of medical genetics and molecular evolution.

Applications to personal genomics

- ancestry, phenotype, disease likelihood -exome variants -each personal genome has >1,000,000 nSNV -current direction of clinical and research applications of genomic sequencing

Predicting predisposition to disease

Evolutionary patterns

-slow evolving positions
-evolutionary retention
-expectation of functional conservation over time (should be true for orthologs)
-EPAs

Mendelian diseases

-strong signals
-prot. point. mut. assoc with >1000 major diseases

Challenges

Common diseases

-same pattern of conservation as normal diversity
-most diseases dont approx simple models
-low and inconsistent correlation
-appear later in life, high freq. in more than 1 pop.

Functional prediction methods

-different results from different in silico methods
-need to enhance quantification of diseases and health; understand genome and disease biology

Examples of discovery

-CFTR protein
-DHODH protein

Current methods

Protein stability changes
Combine existing results:

 logistic regression
 Bayesian networks
 decision trees
 support vectors machines
 random forests
 multiple selection rule voting

Future directions and applications

References

External links