Methods and systems for genome analysis

Abstract

The present disclosure provides methods and systems for prioritizing phenotype-causing genomic variants. The methods include using variant prioritization analyses and in combination with biomedical ontologies using a sophisticated re-ranking methodology to re-rank these variants based on phenotype information. The methods can be useful in any genomics study and diagnostics; for example, rare and common disease gene discovery, tumor growth mutation detection, drug responder studies, metabolic studies, personalized medicine, agricultural analysis, and centennial analysis.

Description

[0001] cross reference [0002] This application claims the benefit of US Provisional Patent Application Serial No. 61 / 927,459, filed January 14, 2014, which is hereby incorporated by reference in its entirety. [0003] Statement of Federally Funded Research [0004] This invention was made with government support under grant numbers R44HG3667, R43LM10874, R43HG6579 and R44HG6579. The government has certain rights in this invention. Background technique [0005] Manual analysis of an individual's genome sequence is a massive, labor-intensive task. While great progress has been made in deoxyribonucleic acid (DNA) sequence read alignment and variant calling, there are few methods for automated analysis of an individual's genome sequence. Indeed, the ability to automatically label variants, combine data from multiple projects, and recover subsets of labeled variants for diverse downstream analysis is becoming a critical analytical bottleneck. [0006] Researchers are now c...

AI Technical Summary

Problems solved by technology

While great progress has been made in deoxyribonucleic acid (DNA) sequence read alignment and variant calling, there are few methods for the automated analysis of individual genome sequences

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