Personal genome sequencing

Wednesday 26 August 2015

Personal genome sequencing is revealing the scale of human genetic variation - including disrupted and garbled information - that we all contain.  The sheer magnitude of this information means that we must presently use predictive computational tools to identify potentially disease-causing variation and mutation.  We are among the first to integrate detailed functional appraisal of genetic variation with predictive tools to assess their suitability for use in a clinical context.  What we discovered was a gap in our knowledge, between mutations that will always cause disease and the numerous variants and mutations that can only be implicated in disease over evolutionary timescales.

» PNAS article

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