seqr

Open source software platform for rare disease genomics, which enables to analyze NGS data. Its integration with PhenoTips allows the collection of detailed phenotype information to be entered for individuals and integration with igv.js allows for interactive visualization of read-level data.

Topics

Collections

Details

License:
GPL-3.0
Maturity:
Mature
Cost:
Free of charge (with restrictions)
Tool Type:
web application
Operating Systems:
Linux, Mac
Programming Languages:
Shell, Python
Added:
3/10/2017
Last Updated:
6/16/2020

Operations

Data Inputs & Outputs

Genetic variation analysis

Documentation