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Data Access Committee UZ Leuven

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Mrs Ruth Storme
dac@uzleuven.be

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This DAC controls 6 datasets

Dataset ID	Description	Technology	Samples
EGAD00001010094	Fastq files of single-cell RNA-sequencing data generated with 10X Genomics of twelve non-invasive cervical samples from pregnant women (7-12 weeks gestational age) and six placental biopsies from patients who had a recurrent miscarriage early during gestation (<12 weeks gestational age).	Illumina NovaSeq 6000	18
EGAD50000000257	Raw paired-end whole-genome sequencing data of plasma cell free DNA on the NovaSeq 6000.	Illumina NovaSeq 6000	810
EGAD50000000855	The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion disorder. Why the incidence of 22q11.2DS is much greater than that of other genomic disorders remains unknown. Short read sequencing cannot resolve the complex segmental duplications (SDs) to provide direct confirmation of the hypothesis that the rearrangements are caused by non-allelic homologous recombination between the low copy repeats on chromosome 22 (LCR22s). To enable haplotype-specific assembly and rearrangement mapping in LCR22 clusters, we used whole genome (ultra-)long read sequencing of 9 duos (patients and parent of origin).	PromethION	18
EGAD50000001000	This dataset contains 22 long-read WGS fastq.gz files sequenced ONT PromethION. In total the dataset includes 20 individuals, for all of them sequencing starting from blood was performed, and for one of the samples sequencing from urine and from the buccal swab was also included. In all the samples methylation calls are included in the fastq file.	PromethION	22
EGAD50000002367	Long read data generated for de novo assembly (PacBio and ONT FASTQ files)	PromethION unspecified	9
EGAD50000002905	Whole-exome (WES) and whole-genome (WGS) sequencing of 567 patients with developmental disorders for which a prospective randomized trial involving all Belgian Human Genetics centers was done to compare the standard of care - combining WES and microarray or shallow WGS - with WGS.	Illumina NovaSeq 6000 Illumina NovaSeq X Plus	1166