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


Specialty

Antibodies

Virology

Immunology

Dna Sequencing

Personalized Medicine

Clinical Diagnostics

Immunity

Cancer Diagnostics

Immunotherapy

Bioinformatics

Flow Cytometry

Immuno-Oncology

Gene Expression

Dna

Big Data

Geography

Europe100%

Registration Source

Website Visitors100%

Job Title

Student100%

Organization

Academic Institution100%


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