摘要:
Contemplated systems and methods provide for machine learning and identification of regulatory interactions in biological pathways using a probabilistic graphical model, and especially for identification of interaction correlations among the regulatory parameters.
摘要:
Systems and methods are presented in which omics data from multiple cell or tissue samples are used to identify pathway elements that are associated with a treatment parameter of the cell or tissue (e.g., resistance towards a specific drug). So identified pathway elements are then modulated in silico in a statistical factor graph model to provide a modified data set that is re-evaluated with respect to the treatment parameter. Such systems and models are particularly useful for recommendation of multi-drug treatments for treatment-nave patients.
摘要:
Contemplated systems and methods integrate genomic/exomic data with transcriptomic data by correlating a cancer associated mutation in the genome/exome with the transcription level of the affected gene carrying the mutation, particularly where the mutation is a 3-terminal nonsense mutation.
摘要:
Systems and methods of genomic analysis are presented that provide a framework to determine a tumor's clonality, the number and proportion of all major clones, and the variants that distinguish them. Contemplated systems and methods also allow phasing mutations to parental alleles to so time their emergence within the population of tumor cells, and provide an accurate estimate of the amount of contaminating normal tissue that was present in the tumor biopsy.
摘要:
Contemplated systems and methods allow for computational genomic analysis using paired-end sequence analysis and split read refinement to thereby identify high-confidence breakpoints associated with high copy numbers and orientation of rearrangements, which is then the basis for full reconstruction of double minutes (DM). In especially preferred aspects, the DM will also include an oncogene or tumor suppressor gene, and/or may be found in blood or blood derived fluids.
摘要:
Systems and methods for dynamic visualization of genomic data are provided in which a genomic visualization system adapts presentation of information content according to scale-relevant annotations within a sequence object.