Koninklijke Philips Corporation N.v.

Intertrust Technologies Corporation

Vartika Agrawal

Nevenka Dimitrova

Raymond J Krasinski

Alexander Ryan Mankovich

Jarl A Nilsson

Nilanjana Banerjee

William Knox Carey

Bart Grantham

Yee Him Cheung

Johanna Maria De Bont

Jozef Hieronymus Maria Raijmakers

Systems and methods involve generating a priority score for a variant of a gene based on its potential significance to a disease or other condition. The prevalence of a variant, the mutation rate of a gene containing a variant, and/or pathogenicity scores associated with a variant may be utilized to determine a priority score. Priority scores may be calculated for multiple variants, and the variants may be ranked based on the generated priority scores.

Systems and methods for prioritizing variants of unknown significance

In patient cohort identification, clustering () of patients is performed using a patient comparison metric dependent on a set of features (). 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 () 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 () each plotting the sample patients and the query patient against two or more features of the modality.

Relevance feedback to improve the performance of clustering model that clusters patients with similar profiles together

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.

Secure transmission of genomic data

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.

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.

Growing community of inventors

Cambridge, MA, United States of America

Vartika Agrawal