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• Emirati Genome Project Population Variome (MAF Table)

  The Emirati Genome Project (EGP) Variome comprises allele frequency data derived from 43,608 individuals sequenced as part of the national genome program in the United Arab Emirates. Samples were processed at the M42 EGP Facility and sequenced to a minimum of 30x coverage using Illumina NovaSeq 6000 short-read technology. Variant calling and alignment were performed using the DRAGEN pipeline (v3.9) against the GRCh38 reference genome. This dataset contains a total of 421,605,069 short variants (SNVs and indels), stored in VCF format. Each variant is annotated with population-level metrics in the INFO field, including: AC (alternate allele count) AF (alternate allele frequency) RC (reference allele count) RF (reference allele frequency) For convenience, VCF files are split by chromosome (chr1–22, X, Y), compressed and indexed using bgzip and tabix.

  Dataset EGAD50000001558

• Whole genome sequencing data of paediatric ETV6-RUNX1 acute lymphoblastic leukemia

  Whole genome sequencing data from paediatric (<18-y) ETV6-RUNX1 fusion positive acute lymphoblastic leukemias. Dataset includes fastq and BAM files from diagnostic and remission (control) samples of 33 patients. Dataset consists of two experiments depending on sequencing instrument; "Experiment 1" sequenced by using Illumina Hiseq X Ten instrument, and "Experiment 2" Illumina Novaseq 6000, respectively.

  Dataset EGAD00001010128

• Assessment of de novo copy number variations in Italian patients with schizophrenia.

  We investigated de novo CNVs in the whole genomic DNA of schizophrenia patients and their parents and, specifically, in putative enhancer motifs.Study participants were part of a wider multicenter study, involving an Italian cohort of schizophrenia patients recruited by members of INRP - Italian Network for Research on Psychoses.Whole genomic DNA obtained from 46 family trios of schizophrenia probands was analyzed using the Enhancer Chip, a customized array CGH developed using the Agilent SurePrint G3 8X60K format, which is able to investigate the whole genome with a 300Kb resolution, specific disease loci at a tenfold higher resolution, and that was highly enriched in probes in more than 1.250 enhancer elements selected from the Vista Enhancer Browser (PLoS One. 2012;7(12):e52264).

  Study EGAS00001002159

• RNA-Seq data of de novo assembly individual EGYPT

  This is the blood RNA-Seq read data used for expression analysis such as haplotypic expression (mapped against GRCh38).

  Dataset EGAD00001006036

• Sequencing data for the manuscript "Multi-focal sampling of de novo metastatic prostate cancer reveals complex polyclonality and enables accurate clinical genotyping"

  This submission includes targeted and whole exome paired-end fastq files.

  Dataset EGAD00001009651

• Bulk transcriptomics of Human High-Grade-B-Cell-Lymphomas differentiated according to IGH status

  GCB DLBCL MB2 DE and HGBCL-DH-BCL2(-BCL6) cases classified according to IGH status in IGH+ or IGH-undetectable

  Dataset EGAD50000001524

• Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants

  We have sequenced four samples to identify variants in KMT2A gene. Three samples were sequenced with WGS, one was sequenced by WES (Patient2).

  Dataset EGAD00001004838

• Mutations in GNAI2 Cause Developmental and Immune Dysregulation

  To define a genetic syndrome of dysmorphism, brain malformations, skeletal defects, endocrine and immune dysfunction, 11 patients from 11 unrelated families who had similar features were studied. Whole exome sequencing was performed to identify disease-causing mutations. A disease segregated with de-novo or autosomal dominant mutations in a single gene, GNAI2, encoding the Gαi2 protein. We define a new Congenital Disorder associated with Gαi2 mutations and downstream functional effects.

  Study phs002817

• Exome_sequencing_in_patients_with_cardiac_arrhythmias

  The institut du thorax in Nantes (FR), the Academic Medical Center in Amsterdam (NL) and the University Hospital of Muenster (DE) have recruited 20 large families comprising at least 3 patients with cardiac arrhythmias and showing history of sudden cardiac death. For each family, the exome of one affected individual has been sequenced at the Wellcome Trust Sanger Institute (UK), in order to identify new genes associated with high risk of sudden cardiac death.

  Study EGAS00001000063

• Novel de novo pathogenic variant in the GNAI1 as a cause of severe disorders of intellectual development with autistic features

  Our probands A and B are boys-monozygotic twins with the clinical diagnosis of severe intellectual impairment, developmental stagnation, and dysphasia. They were diagnosed at the Department of Medical Genetics and Genomics (University Hospital Brno). Parents provided written informed consent, which was approved by the Research Ethics Committee of Masaryk University and Ethics Committee of University Hospital Brno. Peripheral blood samples were collected in sterile heparinized tubes for cytogenetic analysis. Genomic DNA samples were obtained from 1 ml peripheral blood in EDTA, according to the standard DNA isolation process using the MagNaPure system (Roche Diagnostics, Basel, Switzerland). Quality and quantity were checked using a DeNovix DS-11 Spectrophotometer (DeNovix Inc., Wilmington, DE, USA) and Qubit® 2.0 (Thermo Fisher Scientific, Inc., Waltham, MA, USA).

  Dataset EGAD00001007736