Roifman DAC

stephen.scherer@sickkids.ca

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Dataset ID	Description	Technology	Samples
EGAD50000000866	In this study, we describe the role of whole genome sequencing (WGS) in providing a definitive diagnosis for a child with T cell deficiency, where targeted panel sequencing of SCID genes and whole exome sequencing had failed. A novel homozygous 8kb deletion in PTCRA, encoding pTCR, was identified. WGS sequence data from the proband, proband’s mother, and proband’s father are deposited.	Illumina NovaSeq 6000	3
EGAD50000003006	Whole exome sequencing of a patient, identifying compound heterozygous variants in the RASAL3 gene associated with T cell lymphopenia, recurrent sinopulmonary infections, oral ulcers, skin lesions, persistent hematuria, and atopy, and additional neurological abnormalities.	Illumina HiSeq 2500	1