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

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• 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