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• Selective Elimination of Immunosuppressive T cells in Patients with Multiple Myeloma

  Study EGAS00001004915

• Mutational consequences of hematopoietic stem cell transplantation in humans

  Study EGAS00001004926

• Searching for genetic modulators of the phenotypic heterogeneity in Brugada Syndrome

  Study EGAS00001005848

• Validation study of genome-wide polygenic score for body mass index in South Asians

  Dac EGAC00001003593

• Genome-wide somatic variants in CRC (GRCh38)

  Study EGAS00001004710

• Illumina Human Exome (ExomeChip) genotype data from the Pomak villages in Greece (HELIC Pomak Isolate). 1040 samples all >=16 years old.

  Isolated populations can empower the identification of rare variation associated with complex traits through next generation association studies. Here we have genotyped individuals from a Greek population isolate on the Illumina HumanExome Beadchip. The HELIC (Hellenic Isolated Cohorts) Pomak collection focuses on the Pomak villages in Greece. Recruitment of this population-based sample was primarily carried out at the village medical centres. www.helic.org

  Study EGAS00001000658

• 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

• Genetics of Schizophrenia in an Ashkenazi Jewish Case-Control Cohort

  Schizophrenia is characterized by high heritability (~80%), yet the identification of susceptibility genes has proven extremely challenging. The Ashkenazi Jewish population, derived from a limited number of founders, may be enriched for a subset of susceptibility alleles, which may also have higher odds ratios than those detected by previous studies. GWAS was conducted in a large Ashkenazi case-control cohort, derived from the Hebrew University Genetic Resource, using the Illumina HumanOmni1-Quad BeadChip.

  Study phs000448

• Improved T Cell Immunity Following Neoadjuvant Chemotherapy in Ovarian Cancer

  This study characterized the evolution of the peripheral immune cell function and composition across the course of standard of care platinum and taxane chemotherapy in ovarian cancer using bulk and single cell transcriptomic approaches. Serial blood samples were collected from ten patients with advanced high-grade serous ovarian cancer treated with chemotherapy. Single cell sequencing was performed on five patients' samples collected before the initiation of chemotherapy and after the third cycle of chemotherapy.

  Study phs002862

• A Pilot Study of NKTR-214 and Nivolumab in Selected Patients with Locally Advanced/Metastatic Sarcoma

  Study cohort comprises samples derived from patients that received treatment on an open-label, non-randomized, non-comparative pilot study of bempegaldesleukin, a CD122-preferential interleukin-2 pathway agonist, with nivolumab in refractory sarcoma at Memorial Sloan Kettering/MD Anderson Cancer Centers (NCT03282344). Patient tumors include a variety of sarcoma subtypes. Samples include whole exome sequencing of tumor/normal pairs, poly-A RNA and TCR sequencing of tumors.

  Study phs002852