Other

Harvard College

The Broad Institute, Inc.

Leighton, Bonnie Berger

Baym, Michael H.

Loh, Po-Ru

Po-Ru Loh

Michael Baym

Bonnie Berger Leighton

Steven Andrew McCarroll

Giulio Genovese

Michael H Baym

Embodiments disclosed herein provide methods, systems, and computer program products that utilize long-range phase information to detect subtle chromosome imbalances in genotype data. Clonal expansions result from mutation followed by selective proliferation, and the embodiments disclosed herein may be used to somatic structural variant events (SVs) predictive or diagnostic of cancer and other diseases.

Methods and systems for detection of somatic structural variants

The redundancy in genomic sequence data is exploited by compressing sequence data in such a way as to allow direct computation on the compressed data using methods that are referred to herein as 'compressive' algorithms. This approach reduces the task of computing on many similar genomes to only slightly more than that of operating on just one. In this approach, the redundancy among genomes is translated into computational acceleration by storing genomes in a compressed format that respects the structure of similarities and differences important to analysis. Specifically, these differences are the nucleotide substitutions, insertions, deletions, and rearrangements introduced by evolution. Once such a compressed library has been created, analysis is performed on it in time proportional to its compressed size, rather than having to reconstruct the full data set every time one wishes to query it.

Compressing, storing and searching sequence data

Growing community of inventors

Cambridge, MA, United States of America

Po-Ru Loh