Interactive genome browser

摘要

Disclosed is an interactive genome browser executing within a web browser application, configured to display patient genetic data and additional genetic data tracks which are aligned by base pair. Additional tracks may include public data, community data, private data, sequence gaps, and additional genetic tests or probes which are available. Tests or probes may be ordered by selecting them from a test or probe track. Data in a genetic information database may also be searched using the interactive genome browser. Analyzed patient data may be published and made available to a community of users, which may communicate with one another.

主权项

1. One or more computing devices, comprising:
one or more processors; memory; and a web browser application configured to execute an interactive genome browser script, stored in the memory and executable on the one or more processors, the interactive genome browser script configured to:
receive, from a user, a set of genetic data associated with a patient undergoing analysis from one or more servers,remove certain genetic data from the set of patient genetic data to generate filtered genetic data of the patient indicating chromosomal segment gain or loss that is associated with one or more genetic disorders that include at least one of Down syndrome, Cri du chat, Wolf-Hirschhorn syndrome, Edward's syndrome, Jacobsen syndrome or Turner syndrome, andreceive genetic data associated with multiple patients from the one or more servers, and statistically analyze the multiple patients data to determine how often the multiple patients exhibit chromosomal gain or loss across an autosomal region associated with the one or more genetic disorders, and through comparison of the filtered genetic data to the statistically analyzed multiple patients data to determine whether the chromosomal segment gain or loss of the patient undergoing analysis is clinically significant.