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Supporting data for Genome Sequencing Result for suspected Primary Ciliary Dyskinesia patients

posted on 2022-01-12, 03:58 authored by Fong Ting Jeffrey Chau
In this dataset, exome and genome sequencing for suspected primary ciliary dyskinesia cohort, including FASTQ, VCF, and BAM files. 61 participants and their family members had exome sequencing performed. 30 participants and their family members with strong clinical association to primary ciliary dyskinesia was recruited for genome sequencing. This study aims to investigate the clinical utility between genome sequencing and exome sequencing reanalysis.

Two teams of genome analysts and bioinformaticians were alternatively allocated to genome sequencing or exome sequencing reanalysis and were blinded to the other team’s analysis. The time for bioinformatics, analysis, and diagnostic utility was recorded for evaluation. Exome sequencing revealed 5 positive cases in the initial phase of the study. The positive case included mutations in RSPH4A, CCDC40, DNAH11, and CFTR. In the reanalysis phase of the study, five new diagnoses were made and identified three inconclusive VUS results with strong genotype-phenotype correlation. Changes in pathogenicity classification in these cases were due to improved literature, correlation with functional investigations, and improvements in in-silico bioinformatic predictions for splicing variants.


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