Leland Stanford Junior University

Frederick E Dewey

Euan A Ashley

Michael P Snyder

Carlos Daniel Bustamante

Matthew Thomas Wheeler

With the advent of low cost, high-throughput whole genome sequencing ('next generation sequencing'), tools are available to assay human genetic variation contributing to inherited disease syndromes. A method is disclosed for prioritization of genetic variants, and identification of disease genes, using network modeling of gene associations.

Method and system for network modeling to enlarge the search space of candidate genes for diseases

In an embodiment of the present invention, three novel human reference genome sequences were developed based on the most common population-specific DNA sequence ('major allele'). Methods were developed for their integration into interpretation pipelines for highthroughput whole genome sequencing.

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Redwood City, CA, United States of America

Frederick E Dewey