Abstract: In patient cohort identification, clustering (30) of patients is performed using a patient comparison metric dependent on a set of features (24). Information is displayed on sample patients who are similar or dissimilar to a query patient according to the clustering. User inputted comparison values are received comparing the sample patients with the query patient. The set of features and/or feature weights are adjusted to generate an adjusted patient comparison metric having improved agreement with the user inputted comparison values. The clustering is repeated using the adjusted patient comparison metric. A patient cohort is identified from a cluster (34) containing the query patient produced by the last clustering repetition. The information on the sample patients may be shown by simultaneously displaying two or more graphical modality representations (70, 72, 74) each plotting the sample patients and the query patient against two or more features of the modality.

Abstract: A method (100) for analyzing a target genome, comprising: (i) aligning (120) sequencing data from the target genome to a reference genome; (ii) identifying (130) heterozygous locations, comprising an identification of allele variants and a frequency of each allele, the allele variants comprising both a reference allele variant and a non-reference allele variant; (iii) generating (140) an alternate reference genome, wherein the identified non-reference allele variant for the identified heterozygous locations replaces the reference allele variant in the reference genome; (iv) aligning (150) sequencing data to the alternate reference genome; (v) identifying (160) a frequency of the allele variants at each of the heterozygous locations; (vi) assessing (170) alignment bias at the identified heterozygous locations, comprising comparing the frequency of allele variants from the reference genome alignment to the frequency of allele variants from the alternate genome alignment; and (vii) generating (190) a report comp

Abstract: The amount of genomic data as well the sensitivity of the information carried necessitates the need to develop smart and efficient ways to transmit genomic data in a secure way. While encryption schemes exist, there is also the need to first reduce the amount of massive information and then apply an encoding and encryption method that will be effective both in the economic sense as well as for security of genomic data. In this invention, we discuss novel techniques to encode processed variant information and send it across to a remote site ensuring covert transmission. The protocols not only encode and encrypts the information; it condenses the information that needs to be transferred.

Abstract: The present disclosure describes systems and methods for generating a priority score for a variant of a gene based on its potential significance to a disease. Priority scores may be calculated for multiple variants, and the variants may be ranked based on the generated priority scores.

Abstract: Methods and corresponding systems for anonymizing genetic data obtained from a patient are described. The ancestry data can be masked by identifying ancestry information marker (AIM) regions in the genetic data. Each AIM region can include including one or more single-nucleotide polymorphism (SNP) alleles associated with a population of patients belonging to a certain ancestry. Once the AIM regions are identified, one or more regions that include clinically relevant data can be identified. The clinically relevant data can be data having one or more gene variants associated with a specific disease or disorder. The genetic data can be anonymized the by masking or removing AIM regions that do not include clinically relevant data.

Abstract: A clinical genomic data processing device includes at least one microprocessor (10) and a non-transitory storage medium (12) storing instructions to implement functions of the device. A user interface (26, 28) receives requests for execution of genomic workflows and to display output generated by the execution of the genomic workflows. A genomic workflow manager manages an asynchronous messaging queue (24) and manages the execution of the genomic workflows. Service providers (20) performs jobs associated with the genomic workflows. The genomic workflow manager communicates with the service providers by messages exchanged via the asynchronous messaging queue to manage the execution of the genomic workflows via jobs performed by the service providers.

Abstract: Methods and apparatus for a secure framework for storing and analyzing genomic data. Embodiments of the present invention apply persistent governance to sensitive information and to the analytics that operate upon it, managing the interaction between the two.

Abstract: In patient cohort identification, clustering (30) of patients is performed using a patient comparison metric dependent on a set of features (24). Information is displayed on sample patients who are similar or dissimilar to a query patient according to the clustering. User inputted comparison values are received comparing the sample patients with the query patient. The set of features and/or feature weights are adjusted to generate an adjusted patient comparison metric having improved agreement with the user inputted comparison values. The clustering is repeated using the adjusted patient comparison metric. A patient cohort is identified from a cluster (34) containing the query patient produced by the last clustering repetition. The information on the sample patients may be shown by simultaneously displaying two or more graphical modality representations (70, 72, 74) each plotting the sample patients and the query patient against two or more features of the modality.

Abstract: A system for characterizing intercellular communication and heterogeneity in cancer tumors, and more particularly a method for detecting sub-populations and receptor-ligand states for providing predictive information in relation to cancer and cancer treatment is disclosed. The system comprises the steps of obtaining from a NGS sequencer, single-cell RNA-seq for a plurality of cells within a tumor, correlation with a plurality of data sets from a curated gene list of receptor-ligand pairs, normalizing their transcript abundance data, assigning states (e.g. 0,1,2,3) to each curated receptor-ligand pair in each cell (e.g.

Abstract: The present disclosure describes systems and methods for generating a priority score for a variant of a gene based on its potential significance to a disease. Priority scores may be calculated for multiple variants, and the variants may be ranked based on the generated priority scores.

Abstract: Methods and systems for visualizing gene expression data in a way that permits the comparison of different patient groups to facilitate medical applications, including cancer diagnostics and treatment planning, particularly breast cancer. The method organises gene expression data for at least one patient into a plurality of windows of a specified size, calculates an average RSEM score for all of the genes in each window and presents the average RSEM scores in a two-dimensional array, wherein one axis organises the windows by patient and the other axis organises the windows by sequence.

Abstract: The amount of genomic data as well the sensitivity of the information carried necessitates the need to develop smart and efficient ways to transmit genomic data in a secure way. While encryption schemes exist, there is also the need to first reduce the amount of massive information and then apply an encoding and encryption method that will be effective both in the economic sense as well as for security of genomic data. In this invention, we discuss novel techniques to encode processed variant information and send it across to a remote site ensuring covert transmission. The protocols not only encode and encrypts the information; it condenses the information that needs to be transferred.

Abstract: Methods and apparatus for a secure framework for storing and analyzing genomic data. Embodiments of the present invention apply persistent governance to sensitive information and to the analytics that operate upon it, managing the interaction between the two.

Abstract: The present disclosure describes systems and methods for generating a priority score for a variant of a gene based on its potential significance to a disease. Priority scores may be calculated for multiple variants, and the variants may be ranked based on the generated priority scores.