235 results for "study_type:"exome sequencing" AND repository:ega"

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• Swedish Bipolar Disorder exome sequencing (SWEBIC)

  Study EGAS00001005860

• Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

  Study EGAS00001000287

• Exome sequencing identifies mutation of the ribosome in T-cell acute lymphoblastic leukemia

  Study EGAS00001000296

• Whole-exome study to identify the causative germline mutations of congenital macrothrombocytopenia

  Study EGAS00001000371

• Whole exome sequencing of virus-associated HCC

  Study EGAS00001000389

• A Cancer Cell-Line Titration Series for Evaluating Somatic Classification

  Study EGAS00001001016

• Comprehensive genomic characterization of early stage bladder cancer - whole exome sequencing data

  For this project about non-muscle invasive bladder cancer (NMIBC), we analysed WES data from 438 patients. The dataset is composed of 876 BAM files: 438 tumor samples and 438 paired blood samples.

  Study EGAS50000000511

• WES in muscle-invasive bladder cancer (MIBC) treated with durvalumab plus olaparib in the neoadjuvant setting: NEODURVARIB trial

  This submission contains the metadata derived from the whole exome sequencing of 70 samples from 26 patients who developed advanced urothelial carcinomas. The patients were enrolled in the Neodurvarib clinical trial, which compares the molecular profiles at diagnosis and after neoadjuvant treatment with Durvalumab and Olaparib. In this regard, the analyzed samples include: normal tissue and tumoral tissue obtained from the transurethral resection of the bladder (TURBT, a procedure performed prior to neoadjuvant therapy) from the 26 patients (52 samples), as well as tissue obtained from the radical cystectomy (a procedure performed after treatment with the aforementioned drugs; 18 samples).

  Study EGAS50000000791

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

  Study EGAS00001005346

• Multifocal ileal NETs study WES

  Study EGAS00001004680

• Whole exome sequencing from small cell lung cancer patients

  Study EGAS00001005087

• Whole Exome Sequencing of Spanish Patients diagnosed with rare ophtalmogenetic disorders: Macular Dystrophy, Retinitis Pigmentosa and Leber's congenital amaurosis.

  Study EGAS00001004084

• Whole exome sequencing of chemotherapy-resistant muscle-invasive urothelial bladder cancer

  Study EGAS00001004231

• Two monogenic disorders masquerading as one: Severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss

  Study EGAS00001004176

• High coverage sequencing of a single sample can account for the problem of intratumor heterogeneity

  Study EGAS00001004200

• Circulating tumor cells for comprehensive and multiregional non-invasive genetic characterization of multiple myeloma

  Study EGAS00001004288

• Longitudinal single-cell transcriptomics reveals distinct patterns of recurrence in acute myeloid leukemia

  Study EGAS00001005820

• Whole Exome sequencing data from Shwachman-Diamond syndrome bone marrow samples

  Study EGAS00001004880

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

  Study EGAS00001005354

• The Xq22.3 contiguous gene deletion syndrome (ATS-ID): from genotype to further delineation of the phenotype

  Study EGAS00001005357

• Retinal Dystrophy_analysis

  Study EGAS00001005369

• Evidence that ciliary genes contribute to non-syndromic familial tall stature

  Study EGAS00001005372

• PIK3CA mutation in a case of CTNNB1 mutant sinonasal glomangiopericytoma

  Study EGAS00001005653

• JEM 20211004R

  Study EGAS00001005764

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

  Study EGAS00001005848