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

in 26.45 milliseconds.

• 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

  Dac EGAC00001003325

• FRIGE IHG Data Access Committee

  Dac EGAC00001002576

• Paediatric Brain Tumour Data Access Commitee

  Dac EGAC00001003170

• 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

  Dac EGAC00001003347

• 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

  Dac EGAC00001000509

• UK NSAID Consortium Data Access Committee

  Dac EGAC00001000548

• COLONOMICS Data Access Committee

  Dac EGAC00001000662

• LLDEEP DAG2+ Data Access Committee

  Dac EGAC00001000694

• Complete Genomics NCS Data Access Committee

  Dac EGAC00001000705

• 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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• NUS CenTRAL Data Access Commitee

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• UCL Cancer Institute Data Access Committee

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• Wargo Laboratory MDACC Data Access Committee

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• Data Access Committee LUMC-KFT pharmacogenetics

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• Samsung Genome Institute Data Access Committee

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• CRCINA Data Access Commitee

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• Serum Metabolomics Data Access Committee

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• The CGGA Data Access Committee

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• Data Access Committee for IMBA

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• NAFLD Research Center Data Access Committee

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• Haematological Malignancy Research Network Data Access Committee

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• Human Pancreas Cell Atlas data access committee

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• MedA UKM, Data Access Committee

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• Lung cancer TRM Data Access Commitee

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• Brain microbiome team data access committee

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• Lymphoid Neoplasms Data Access Commitee

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• Mesomics data access commitee

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• CONTAGIOUS Trial Data Access Committee

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• Plasma DNA Sequencing Data Access Commitee

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• DKFZ OE0214 Data Access Committee

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• Term-Preterm data access commitee

  Dac EGAC00001001918

• STOP-HCV data access committee

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• 4C Endometrial Cancer Data Access Committee

  Dac EGAC00001001956

• Dasman Diabetes Institute Data Access Commitee

  Dac EGAC00001001966

• Geninus WTS Data Access Commitee

  Dac EGAC00001001979

• Retinoblastoma Data Access Committee - Institut Curie

  Dac EGAC00001002050

• Data Access Committee for data from EGAS00001005174

  Dac EGAC00001002059

• Haematological Malignancy Research Network Data Access Committee

  Dac EGAC00001002082

• Retinoblastoma Data Access Committee - Institut Curie

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• Clonal Evolution Project Data Access Committee

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• Asan Medical Center Data Access Committee

  Dac EGAC00001002143

• Data Access Committee for data from EGAS00001005395

  Dac EGAC00001002183

• pan-body mutagenesis data access committee

  Dac EGAC00001002218

• CRUK Lung Neoantigen Data Access Commitee

  Dac EGAC00001002242

• CHUV Data Access Committee

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• The MITIMM Cancer Data Access Committee

  Dac EGAC00001002268

• Retinoblastoma Data Access Committee - Institut Curie

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• Data Access Committee for PPIL4 Paper

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• Cancer Sequencing Data Access Committee

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• Cancer Core Europe Data Access Commitee

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• Hubrecht Organoid Technology Data Access Committee

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• MRKH Organoids Data Access Committee

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• Molecular Disease Mechanisms Group Data Access

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• Meningene researchers data access committee

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• Haematological Malignancy Research Network Data Access Committee

  Dac EGAC00001002573