Sequence to medical phenotypes: a framework for identifying clinical phenotypes in whole genome DNA sequence data

Stanford inventors have developed a series of methods which can identify genetic variants and medical genotypes through the phasing of genetic data with the use of Mendelian inheritance as quality control. Additionally these methods allow for predictive genetic information regarding rare disease phenotype risk and responses to pharmacological therapy. This is brought about given the paradox of low price human genome sequencing with the difficulty of interpreting this information and being able to use it in a clinical context.