AUG 21, 2014 2:30 PM PDT

Integrating patient specific information in rare disorder analysis

Speaker

Abstract

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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AUG 21, 2014 2:30 PM PDT

Integrating patient specific information in rare disorder analysis



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