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Genomic sequencing of HG001 sample

This study is for testing purposes. We will use only chromosome 22 alignment BAM file and a complete variant calling VCF file to illustrate the technical compliancy with FEGA processes.

Type: Whole Genome Sequencing
Archive: Federated EGA France Federated EGA Node

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000000553	The following dataset contains chromosome 22 alignment file and whole genome variant calls for sample HG001 from 1KGP. Analyses were performed using GRCh38 reference genome. BWA was used for the genomic alignment. GATK4 for variant calling	Illumina NovaSeq 6000	1

Publications	Citations
Diagnosis of pediatric central nervous system tumors using methylation profiling of cfDNA from cerebrospinal fluid. Cornelli L, Van Paemel R, Ferro Dos Santos MR, Roelandt S, Willems L, Vandersteene J, Baert E, Mus LM, Van Roy N, De Wilde B, De Preter K. Clin Epigenetics 16: 2024 87	17