WGS to Medical Phenotypes

[PMID:26448358] [PLoS Genetics]

Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data 

“a series of methods for identification of genetic variants and genotypes with clinical associations, phasing genetic data and using Mendelian inheritance for quality control, and providing predictive genetic information about risk for rare disease phenotypes and response to pharmacological therapy in single individuals and father-mother-child trios.”

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