Investigator Cancer Center, Massachusetts General Hospital

Investigator, Full Prof (M) KFCCR Faculty, Mass General Research Institute

Institute Member Broad Institute

Professor of Pathology Harvard Medical School

breakpointer; cancer genome analysis; capseq; chronic lymphocytic leukemia; clumps; dna mutational analysis; dranger; gene dosage; genes neoplasm; genomics; germline events; gistic; high-throughput nucleotide sequencing; human genome; indelocator; molecular subtypes of cancer; mutation; mutect; mutsig; neoplasms; segseq; sequence analysis dna; somatic events The Getz Laboratory is focused on cancer genome analysis which includes two major steps: (i) Characterization – cataloging of all genomic events and the mechanisms that created them during the clonal evolution of the cancer, including events at the DNA, RNA and protein levels in normal and tumor samples from an individual patient; and (ii) Interpretation – analysis of the characterization data across a cohort of patients with the aim of identifying the alterations in genes and pathways that cause cancer or increase its risk as well as identifying mutational processes, tumor evolution and heterogeneity, molecular subtypes of the disease, their markers and relationship to clinical variables.

In addition to developing tools for high throughput analysis of cancer data and experimentally testing the findings, the Getz lab develops platforms that enable to manage and execute these large-scale analytical pipelines, including Firehose and a cloud-based version FireCloud, and builds portals that enable the research community to interact with the data and results of the analyses.