AUG 21, 2014 02:30 PM PDT

Integrating patient specific information in rare disorder analysis

  • Research Associate, Genome Institute of Singapore (GIS), A*STAR
      Asif Javed received his PhD in Computer Science from Rensselaer Polytechnic Institute in 2008 working in population genomics. He then joined IBM TJ Watson Research Center as a postdoctoral researcher where his work was part of the Genographic project. In 2011, Dr Javed joined Genome Institute of Singapore, A*STAR as a research associate where his work focuses on rare disorder analysis and cancer genomics. He is currently applying the computational algorithms he has developed to elucidate the genetic cause of Mendelian disorders in multiple families.


    Rare disorder analysis has been facilitated by the declining cost of sequencing. Despite numerous success stories the underlying cause remains unexplained in >50% cases, emphasizing the need for new discovery tools interrogating both coding and non-coding regions. We introduce Phen-Gen, which combines patients disease symptoms and sequencing data with prior domain knowledge in a holistic prediction to identify the causative gene(s). Phen-Gen works with both exome and whole genome sequencing data and has been evaluated in extensive simulations as well as real datasets.

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