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Additional file 1. Table 1: Genes on 19 and 29 gene next generation sequencing panel used for PCD genetic testing in patients in the Wessex PCD cohort prior to WGS through the 100,000 Genomes Project

Objectives Disease-specific, well-defined and validated clinical outcome measures are essential in designing research studies. Poorly defined outcome measures hamper pooling of data and comparisons between studies. We aimed to identify and describe pulmonary outcome measures that could be used for follow-up of patients with primary ciliary dyskinesia (PCD). Methods We conducted a scoping review by systematically searching MEDLINE, Embase and the Cochrane Database of Systematic Reviews online databases for studies published from 1996 to 2020 that included ���10 PCD adult and/or paediatric patients. Results We included 102 studies (7289 patients). 83 studies reported on spirometry, 11 on body plethysmography, 15 on multiple-breath washout, 36 on high-resolution computed tomography (HRCT), 57 on microbiology and 17 on health-related quality of life. Measurement and reporting of outcomes varied considerably between studies (e.g. different scoring systems for chest HRCT scans). Additionally, definitions of outcome measures varied (e.g. definition of chronic colonisation by respiratory pathogen), impeding direct comparisons of results. Conclusions This review highlights the need for standardisation of measurements and reporting of outcome measures to enable comparisons between studies. Defining a core set of clinical outcome measures is necessary to ensure reproducibility of results and for use in future trials and prospective cohorts.

Additional file 2. Additional information on 100,000 Genomes Project recruitment, sequencing, sequence analysis and variant filtering and tiering performed by Genomics England Ltd.

Additional file 2. Additional information on 100,000 Genomes Project recruitment, sequencing, sequence analysis and variant filtering and tiering performed by Genomics England Ltd.