14465 results for "PLOS+ONE+Pennsylvania+German+ACS+language+code+pdc+open+access+study"

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• Nature and Contribution of Noncoding, Regulatory Mutations in Neurodevelopmental Disorders

  This dbGaP study contains variant call files generated from whole-genome sequencing data of families with autism. The variant callers include FreeBayes, GATK, Platypus, and Strelka2. A family-level VCF file, from each caller, is provided for each family in the study. The families included in this study are from the Simons Simplex Collection (SSC), the Study of Autism Genetics Exploration (SAGE), and The Autism Simplex Collection (TASC); sequencing was performed at the New York Genome Center, as part of the Centers for Common Disease Genomics (CCDG) Consortium. The analysis to generate the variant callsets was supported by a K99 Pathway to Independence grant to Dr. Tychele Turner (1K99MH117165-01). *Access to phenotype data at the individual level for Simons Simplex Collection (SSC) subjects can be requested from SFARI Base: https://www.sfari.org/resource/sfari-base/.

  Study phs001874

• Genetic Analysis of the Chiari I Malformation

  This study used whole exome sequencing (WES) on families affected with Chiari I Malformation (CM1). Individuals were recruited from the Republic of Tartarstan in the Russian Federation, where CM1 has a high prevalence (approximately 413 out of 100,000). At least one-third of these affected individuals have an affected relative. In collaboration with Dr. Enver Bogdanov of Kazan State Medical University, seven extended families affected with CM1 were identified. Eligible participants for this study were required to 1) have CM1 and a family member with syringomyelia or CM1, or 2) be a family member of a patient with CM1 and have at least two immediate family members diagnosed with CM1. Adults and minors were eligible for this study and recruitment was through self and physician referral. Patients were excluded if they had a contraindication to MRI scanning, were unable to understand the risks of testing, were under one year of age, or could not undergo MRI scanning without sedation. Study participants underwent SPGR (Spoiled Gradient Recalled) and T1-weighted MR-imaging of the brain and cervical spinal cord to assess the volume of the posterior fossa, as well as the presence of CM1. Individuals were defined as having CM1 if the inferior aspect of the cerebellar tonsils were lying ≥=2 mm caudal to the foramen magnum. Individuals were defined as having a small posterior fossa volume if the ratio of the posterior fossa volume to the supratentorial volume was < 0.15. Sixty-two patients (both cases and controls) from the seven extended families had DNA extracted from blood lymphocytes contained in 10 milliliters of stored blood. Whole exome sequencing (WES) was performed by the National Intramural Sequencing Center (NISC). These genotype data, as well as the case-control phenotype data on CM1 diagnosis and small posterior fossa diagnosis, were made available to dbGaP.

  Study phs001795

• MALT1 in MCL data access commitee

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• MX Biobank Data Access Committee

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• VIB-UZL Data Access Committee

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• Human Origins African Data Access Commitee

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• HNO Team Data Access Committee

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• LYMPHGEN Data Access Commitee

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• LifeLines-NEXT data access commitee

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• Institut Curie Data Access Commitee

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• Pediatric Solid Tumor Data Access Committee

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• FRIGE IHG Data Access Committee

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• Paediatric Brain Tumour Data Access Commitee

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• Data Access Committee for WES RCC

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• TKI-Resistance Data Access Commitee

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• UCSF SU2C/WCDT Data Access Commitee

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• Cancer Team Data Access Committee

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• EORTC-26101 Data Access Commitee

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• SGDAC- SciGenom Data Access Committee

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• Neuromics Data Access Committee

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• XinHuaHospital NGS Data Access Committee

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• CCRI Data Access Committee

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• iGEN-BP Data Access Committee

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• Murtaza-Rosenfeld-Caldas Data Access Committee

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• MRC Brain Bank Data Access Committee

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• SAHA-ZIM Data Access Committee

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• UK NSAID Consortium Data Access Committee

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• COLONOMICS Data Access Committee

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• LLDEEP DAG2+ Data Access Committee

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• Complete Genomics NCS Data Access Committee

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• MET-breast-Landscapes Data Access Committee

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• Institut Pere Mata Data Access Committee

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• Canadian Epilepsy Network (CENET) data access committee

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• MCCB Breast Cancer Data Access Committee

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• LYMPHGEN Data Access Commitee

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• Copy-choice recombination Data Access Committee

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• Predictive Oncology Team Data Access Committee

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• Immunohematology Amsterdam UMC Data Access Committee

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• Rectal Cancer Samples Data Access Committee

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• PRISM WGS Data Access Commitee

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• CHOP VEO-IBD Data Access Committee

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• LungNENomics data access commitee

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• Infant Glioma RNASeq Data Access Committee

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• PRISM WGS Data Access Commitee

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• Hartwig Medical Foundation Data Access Board

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• Yale Cancer Center Data Access Commitee

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