Disorder-causing mutations are hard to detect — they have to be identified among a host of other, innocuous genetic changes. Omicia’s software tools are profiled as Nature takes a look the tools physicians and researchers use to sift through sequenced genomes in search of such mutations.
Omicia, Inc. today announced that four new world-renowned clinical and genomic scientists will advise the strategic development of Omicia’s clinical diagnostic genome interpretation software, and support the company’s vision of improved patient care through personalized medicine.
Omicia, Inc. today announced that Omicia’s clinical next-generation sequencing (NGS) interpretation software will be used by LabCorp for its clinical trials sequencing services.
Researchers at The University of Texas MD Anderson Cancer Center and other institutions have applied a newly developed software tool, pVAAST, to identify genetic mutations that contribute to a person���s increased risk for developing common, complex diseases, such as cancer. The research is published in the May 2014 edition of
A powerful tool called pVAAST that combines linkage analysis with case control association has been developed to help researchers and clinicians identify disease-causing mutations in families faster and more precisely than ever before.
Omicia’s Martin Reese explains how Phevor–developed in collaboration with the University of Utah and MD Anderson Cancer Center — offers a more automated means of selecting the gene variants that likely play the most pertinent roles in a particular patient’s disease phenotype.
Omicia announced the appointment of Paul Billings, M.D., Ph.D., as Chief Medical Officer. Dr. Billings joins Omicia as genomics expands from the research lab to become a valuable clinical diagnostic tool.
Omicia and colleagues at the USTAR Center for Genetic Discovery and MD Anderson Cancer Center report that they have successfully identified diseases with unknown gene mutations in three separate cases using the collaboratively-developed Phevor (Phenotype Driven Variant Ontological Re-ranking tool).
Phevor works by using algorithms that combine the probabilities of gene mutations being involved in a disease with databases of phenotypes, or the physical manifestation of a disease, and information on gene functions. By combining those factors, Phevor identifies an undiagnosed disease or the most likely candidate gene mutation for
A genetics research center at University of Utah in Salt Lake City and Omicia Inc., a genomic analytics company in Oakland, California are developing systems to make genomic analysis a routine medical diagnostic procedure.
