13380 results for ""pdc"+"heritage+language"+census+study"

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• Genome Sequencing of Familial Cholangiocarcinoma for the Identification of Germline Risk Alleles

  In this study, sequencing data (WES, WGS, linked-read WGS) was used to identify candidate causal germline variants in a family with inherited cholangiocarcinoma. Candidate causal SNVs and indels were identified from the germline WES data of eight siblings (four affected, four unaffected), then somatic second hits were identified from matched tumor/normal pairs. Second hits were verified using haplotype information derived from linked-read WGS of the tumor data.

  Study phs001593

• Genetics and Pathophysiology of Autoinflammatory Disorders

  In this study, patients with suspected disorders of inflammation and innate immune system dysregulation will undergo whole exome sequencing. This will involve both family studies (often trios or multiplex families including affected and unaffected individuals) and sporadic cases. The overall objective is to discover rare/novel high-penetrance mutations in genes that have not yet been implicated as the cause of monogenic autoinflammatory diseases. The aim also includes discovery of variants associated with inflammatory disease susceptibility.

  Study phs001860

• Neoadjuvant Pazopanib in Renal Cell Carcinoma

  This study examined the tissue of patients who received oral pazopanib prior to nephrectomy. Patients were consented and underwent a pre-treatment biopsy. Pretreatment samples for analysis were preserved as available. Subjects underwent a proscribed course of treatment with pazopanib. At the completion of treatment, subjects underwent a planned nephrectomy, and samples were collected from the nephrectomy specimen. We recorded response to treatment, adverse events, and 2 year follow up for recurrence.

  Study phs002053

• Breast Cancer Family Registry Early-onset Breast Cancer GWAS

  In order to enhance our understanding of the genetic etiology of breast cancer, this study analyzed 1,265,548 Hapmap3 single-nucleotide polymorphisms (SNP) among a discovery set of 3,523 EOBC incident cases and 2,702 age-matched population control women, all of whom were age 50 or younger at enrollment. Subjects were recruited from the eight sites, some of which oversampled cases with a personal or family history of breast cancer.

  Study phs001589

• Immune Dysregulation in Human Subjects with Heterozygous Germline Mutations in

  We identified germline heterozygous mutations in CTLA4 in members of four families with severe immune dysregulation. Human CTLA4 haploinsufficiency caused dysregulation of FoxP3+ regulatory T (Treg) cells and lymphocytic infiltration of target organs, mimicking Ctla4 homozygous mice. Patients also exhibited a B cell phenotype, with progressive loss of B cells and accumulation of autoreactive CD21lo B cells. This study demonstrates a critical quantitative role for CTLA-4 in human immune homeostasis.

  Study phs000797

• Airway Epithelial Cell Culture RNA Expression

  This study seeks to characterize airway epithelial mRNA and miRNA expression under a variety of experimental conditions. Samples are available from primary human cell cultures as well as cell lines grown under a variety of experimental conditions as documented in the phenotype and conditions associated with each individual sample. For some experiments, cells on plastic were exposed to cigarette smoke condensate to evaluate the effects of smoking. FOSL1 is a target gene for regulation by MIR34A family microRNAs.

  Study phs002472

• Genetic Analysis of Syndromic Orofacial Clefting

  The goal of this study is to identify previously unknown genetic causes of human syndromic cleft lip/palate by using genome sequencing. Many previous studies have shown that isolated cleft lip and/or palate are not often likely to be monogenic or Mendelian diseases. We hope that by focusing on syndromic presentations, we will find novel causes of disorders which include orofacial clefting among their phenotype(s). Data provided will be fastq files from sequencing partners.

  Study phs002997

• Blood Gene Signatures Associated with Stiffness After TKA

  In this study, we used PAXgene Blood RNA tubes collected from patients undergoing total knee arthroplasty (TKA) for osteoarthritis. Samples were collected with IRB approval and patient consent. We identified 8 patients with knee stiffness after TKA (cases) and 10 patients without post-TKA stiffness (controls). We isolated RNA from cases and controls for RNA-seq analyses, comparing samples collected the day of surgery and samples collected at 24 hours after surgery.

  Study phs002927

• Epigenetic Damage in Women Living in LA Food-Desert Zip Codes

  This study investigated the impact of insulin resistance on chromatin acetylation and inflammation. Blood samples were obtained from women consented to City of Hope Institutional Review Board (IRB)-approved COH Protocol#/Ref#:18306/158149. Women provided demographic information and completed a survey assessing diet, housing and medical history. BMI was obtained from medical records. HgbA1c was measured and cytokine arrays were used to measure serum TNFalpha, IL6, IL15, IL16, IL23, Leptin, and CXCL1.

  Study phs003522

• High-Fidelity, Large-Scale Targeted Profiling of Microsatellites

  This study developed a novel method of targeted sequencing of microsatellites. We optimized every aspect of targeted hybridization capture geared towards minimizing artifacts that commonly occur in laboratory manipulation of microsatellite-containing DNA. This achieved a higher fidelity for microsatellite sequencing than standard targeted DNA sequencing. In the accompanying manuscript, we also introduce two computational tools for design of targeted microsatellite capture panels and for analyzing the resulting microsatellite sequencing data.

  Study phs003679