Detailed and accurate clinical phenotype data is essential for accurate interpretation of genomic data. The Phenotype Capture Tool (PCT) is an online tool built to collect clinical phenotype data for patients with primary immunodeficiency recruited to the NIHR BioResource Rare Diseases study. All clinical phenotype data should be submitted using the PCT. Appointed staff in each recruiting centre will be given access to the PCT after completing a training session run by Luiza Campos. The training will focus on the selection of HPO terms for primary immunodeficiencies, aiming to improve quality control of data entry.
A document has been produced to aid the collection of data of using the PCT:
Contacts:
Stewart Fuller
Project manager– Intrepid Project, Email: enquiries@intrepidproject.info
Luiza Campos
Clinical Fellow – Intrepid Project, Email: luiza.c.campos@ucl.ac.uk
Émeline Favreau Bioinformatician – Intrepid Project, Email: ef479@cam.ac.uk