12504 results for ""non-traditional+communal+storytelling+approach"+novel+segment+noted+in+critical+commentary"

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• Washington University PDX Development and Trial Center

  This data set is a collection of patient specimens from common and rare cancers that have been developed into patient-derived xenograft (PDX) models at the Washington University PDX Development and Trial Center (WU-PDTC). The goal of the PDTC is to develop and characterize PDX models, gaining insight into tumor biology, and validating biomarkers across all major tumor types. Pre-clinical experiments in these PDX models will be used to advance our ability to predict clinical responses to new molecularly targeted agents under development.

  Study phs002305

• International Multi-Center ADHD Gene Project (IMAGE) II Case Sample

  This sample represents a collection of cases across a range of sites. All of these samples were ascertained for ADHD with most meeting criteria for combined type ADHD. The collection sites span Europe and America. Further details on the source and inclusion and exclusion information can be found in Neale et al. "Case-Control Genome-Wide Association of Attention-Deficit / Hyperactivity Disorder" J Am Acad Child Adolesc Psychiatry. 2010 September; 49(9): 906-920 PMID20732627. For online access to this manuscript see: PMC2928577.

  Study phs000407

• The Mexican-American Coronary Artery Disease Study (MACAD)

  The MACAD Study, funded by NHLBI, was designed to explore genetic contributions to coronary artery disease and glucose homeostasis traits among Hispanics using a family-based design. The baseline examination of the cohort included the euglycemic hyperinsulinemic clamp test from which the two key phenotypes were obtained: insulin sensitivity (M) and metabolic clearance rate of insulin (MCRI). Genome-wide genotyping was obtained under separate funding by NIDDK as a part of the GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.

  Study phs001397

• Bladder Chemotherapy Responders

  Cisplatin-based chemotherapy is the standard of care for patients with muscle invasive urothelial carcinoma. Pathologic downstaging to pT0/pTis after neoadjuvant cisplatin-based chemotherapy is associated with improved survival, and some patients with metastatic disease achieve complete responses to these therapies. However, the molecular determinants of cisplatin response are incompletely understood. We performed whole exome sequencing on tumor and germline DNA from patients with muscle invasive or metastatic urothelial carcinoma who received cisplatin-based chemotherapy to identify somatic mutations that occurred preferentially in cisplatin responders.

  Study phs000771

• Genome Wide Association Study of Chronic TMD: Discovery Phase

  The OPPERA project is investigating effects of genetic, physiological, psychological and clinical factors on the risk of developing painful temporomandibular disorder (TMD). This case-control study is a discovery-phase genome wide association study that aims to identify commonly-occurring genetic variants associated with chronic TMD. It represents the first step in a series of studies that seek to identify the genetic background of TMD. For related phenotype and targeted genotype data, please see additional studies from the OPPERA project at dbGaP phs000761).

  Study phs000796

• Rhode Island Child Health Study (RICHS)

  Mother and infant pairs were enrolled in the Rhode Island Child Health Study (RICHS) at the Woman and Infant's Hospital from 2009 through 2014. This population consists of singleton, term infants (≥37 weeks gestation) born without serious pregnancy complications or congenital or chromosomal abnormalities. Given a priority interest to study fetal growth, the RICHS population was oversampled for both large for gestational age (LGA, >90% 2013 Fenton Growth Curve) and small for gestational age (SGA, <10% 2013 Fenton Growth Curve) infants.

  Study phs001586

• Integrative Genomic and Transcriptomic Analyses of Refractory Multiple Myeloma

  This study reports results from integrative sequencing analyses that combine capture transcriptome sequencing with a comparative analysis of exome capture between the malignant plasma cells and normal cells of patients with relapsed and refractory multiple myeloma (RRMM). This approach has enabled the detection of point mutations, insertions/deletions, gene fusions and rearrangements, amplifications/deletions, and outlier expressed genes among other classes of alterations that contribute to disease progression and drug resistance in the RRMM patients. 

  Study phs002498

• African American Adolescent Idiopathic Scoliosis Whole Genome and Whole Exome Study

  Adolescent idiopathic scoliosis (AIS) is the most common pediatric spinal deformity. The causes of scoliosis are only now being discovered yet are important for predicting outcome and need for surgery. Prior studies have investigated the causes of scoliosis, including common and rare variant risk factors, but have mostly used populations consisting of Asian or European ancestry. It is essential that we determine what the risk factors are in all populations so that we can delivery equitable care to all individuals.

  Study phs003136

• Mutational Landscape of Lethal Castrate Resistant Prostate Cancer

  Exome sequencing of matched pairs of tumor / normal genomic DNA was performed from high risk localized prostate cancer or lethal, metastatic, castrate resistant prostate cancer (CRPC). Exome libraries were prepared using Illumina Paired_End Genome DNA Sample Prep Kit and captured using Agilent SureSelect Capture Library or Roche EZ Exome capture library. Sequencing was performed on Illumina GAII and HiSeq 2000 platforms in paired end mde, with 80 base pair reads from the final library fragments. Copy number alterations and somatic mutations were identified.

  Study phs000554

• Genomics and Modification of Pain: A peripheral component identified using iPSCs with the S241T mutation

  We have capitalized on inherited erythromelalgia (IEM) as a well-characterized genetic model of chronic pain, and studied IEM patients carrying Nav1.7 mutations which affect channel activation and often produce hyperexcitability of DRG neurons. Whole exome sequencing was used to discover multiple gene variants that might contribute to neuronal excitability and that might serve as modifiers of sensory neuron firing, and identified the Kv7.2 channel as a contributor to differences in pain profiles between individuals.

  Study phs001724