Using full genomic information to predict disease: breaking down the barriers between complex and Mendelian diseases

DM Jordan, R Do - Annual Review of Genomics and Human …, 2018 - annualreviews.org
While sequence-based genetic tests have long been available for specific loci, especially for
Mendelian disease, the rapidly falling costs of genome-wide genotyping arrays, whole-
exome sequencing, and whole-genome sequencing are moving us toward a future where
full genomic information might inform the prognosis and treatment of a variety of diseases,
including complex disease. Similarly, the availability of large populations with full genomic
information has enabled new insights about the etiology and genetic architecture of complex …
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