Roche Sequencing Solutions, Inc.

Bina Technologies, Inc.

Roche Diagnostics Gmbh

F. Hoffmann-la Roche Ag

Roche Diagnostics Care, Inc.

Marghoob Mohiyuddin

Jike Chong

Austin Doupnik

Hugo Y K Lam

Yao Fu

Aparna Chhibber

Narges Bani Asadi

Henry Chen

Li Tai Fang

Mohammad Sahraeian

Hugo YK Lam

Described herein are methods, systems, and apparatuses for detecting significantly mutated genes/pathways in a cancer cohort. A driver gene detection technique taking into account the heterogeneous mutational context in a cancer cohort is disclosed. A statistical model of a gene-specific mutation rate distribution (e.g., using an optimized gene specific mean estimation and/or a gene-specific dispersion estimation) is used to model a sample/gene-specific background mutation rate. The statistical model may then be used to detect gene/pathway enrichment and distinguish tumor suppressors and oncogenes based on the spatial distribution of non-silent mutations, loss-of-function mutations, and/or gain-of-function mutations.

Detecting cancer driver genes and pathways

The present disclosure provides systems and methods for nucleic acid sequence analysis. A system for processing raw nucleic acid sequence data from a genomic sequencer comprises a data processing server having a housing contained therein one or more processing modules. The one or more processing modules can each comprise an electronic control unit programmed to align nucleic acid sequence data from a genomic sequencing device and perform one or more of variant analysis and structural variant analysis on the nucleic acid sequence data. The system can further comprise a computer server in communication with the processing server. The computer server can be programmed or otherwise configured to process and/or analyze the aligned nucleic acid sequence data.

Systems and methods for processing nucleic acid sequence data

Growing community of inventors

Foster City, CA, United States of America

Marghoob Mohiyuddin