Functional modules, mutational load and human genetic disease.

  title={Functional modules, mutational load and human genetic disease.},
  author={Norann A. Zaghloul and Nicholas Katsanis},
  journal={Trends in genetics : TIG},
  volume={26 4},
The ability to generate a massive amount of sequencing and genotyping data is transforming the study of human genetic disorders. Driven by such innovation, it is likely that whole exome and whole-genome resequencing will replace regionally focused approaches for gene discovery and clinical testing in the next few years. However, this opportunity brings a significant interpretative challenge to assigning function and phenotypic variance to common and rare alleles. Understanding the effect of… CONTINUE READING

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