Whole-genome sequencing with complement C1s deficiency linked to systemic lupus erythematosus

This dataset includes two FASTQ files (R1 and R2) from an Illumina germline nuclear DNA whole-genome sequencing run of a single sample. The sample corresponds to a 34-year-old male with a rare deficiency in complement component C1s, linked to systemic lupus erythematosus (SLE). Genomic analysis revealed two novel mutations in the C1S gene.

03/12/2024
1 sample
DAC: EGAC00001002981
Technology: Illumina NovaSeq 6000

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Study ID	Study Title	Study Type
EGAS50000000707	Complement C1s deficiency in a male Caucasian patient with systemic lupus erythematosus: A case report	Whole Genome Sequencing

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID	File Type	Size
EGAF50000239966	fastq.gz	30.6 GB
EGAF50000239967	fastq.gz	29.5 GB
2 Files (60.1 GB)