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• The Xq22.3 contiguous gene deletion syndrome (ATS-ID)

  Study EGAS00001005354

• The Extracellular RNA Quality Control (exRNAQC) study (phase 2)

  Study EGAS00001006499

• Analysis of cell type contributions to cell free DNA in health and disease.

  This study looks at cell type contributions to cell free DNA in health and disease.

  Study EGAS50000000178

• Whole exome-sequencing of pediatric and adult H3-K27M diffuse midline glioma

  H3-K27M mutant difffuse midline gliomas across different age groups and anatomical locations were profiled by WES.

  Study EGAS00001006431

• Single cell whole genome sequencing of primary and metastatic samples with Direct Library Preparation (DLP+)

  Single cell whole genome sequencing of primary and metastatic samples with Direct Library Preparation (DLP+)

  Study EGAS00001007912

• GBM Up and Down Responder EZH2 ChIPseq

  ChIPseq using anti-EZH2 with a sheared input DNA control to assess EZH2 genomic biding in one longitudinal pair of samples (pre- and post-treatment) from one UP and one DOWN responder GBM patient

  Dataset EGAD50000000134

• Germline BAMs from patients with both uveal and cutaneous melanoma

  Germline BAMs from blood/saliva samples from patients diagnosed with both uveal and cutaneous patients. Reads have been aligned, deduplicated and recalibrated.

  Dataset EGAD00001011676

• Characterization of Clonal Evolution in Microsatellite Unstable Metastatic Cancers through Multi-Regional Tumor Sequencing

  Whole exome sequencing was performed on blood and multiple tumor samples from six patients with known microsatellite unstable tumors. Subclones within each tumor site were identified and within each subclone, differing microsatellite instability was characterized.

  Study phs001925

• Whole exome sequencing of uterine cervical cancer

  We conducted whole-exome sequencing of cervical tissue samples to evaluate HLA loss of heterozygosity (LOH) and B2M gene mutations, which are key mechanisms of immune evasion that allow cancer cells to escape T-cell recognition and antigen presentation.

  Study JGAS000824

• Building a Database of Genomic Structural Variants in Japanese population

  Purified genomic DNA was purchased from Japanese Collection of Research Bioresources (Japanese B cell DNA bank), National Institutes of Biomedical Innovation, Health and Nutrition in Japan. We sequenced those genomic DNAs using PacBio Sequel II and analyzed genomic structural variations.

  Study JGAS000596