12385 results for ""statistically+reactive"+taxa+in+microbial+community"

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• Genetic sequencing of MODY patients.

  Maturity-onset Diabetes of the young (MODY) is an early-onset, autosomal dominant form of non-insulin dependent diabetes. Genetic diagnosis of MODY can transform patient management. Earlier data on the genetic predisposition to MODY have come primarily from familial studies in populations of European origin. Using next generation sequencing, we carried out a comprehensive genomic analysis of 289 individuals from India that included 152 clinically diagnosed MODY cases to identify variants in known MODY genes. Our findings report that HNF1A and ABCC8 are among the most frequently mutated MODY genes in south India.

  Study EGAS00001001699

• Independent development of lymphoid and histiocytic malignancies from a shared early precursor

  Recent reports have described lineage flexibility in patients with recurrent hematologic malignancies. We encountered a boy with T-lineage acute lymphoblastic leukemia, non-Langerhans cell histiocytosis and histiocytic sarcoma. All tumors showed identical T-cell receptor rearrangements, but SNP arrays and whole exome sequencing revealed unique aberrations in each tumor. From the genetic data we conclude that the tumors were derived from a precursor cell with lineage plasticity for both lymphoid and myeloid development. From this precursor cell, the tumors evolved with independent genetic progression in a non-linear manner.

  Study EGAS00001001353

• Identification_of_drug_resistance_genes_in_melanoma_by_mRNA_gene_expression

  We aim to sequence the mRNA transcriptome of 22 human melanoma cell lines in biological triplicate in order to define the gene expression profile of each cell line. The data will be correlated to the mutation status and the sensitivity to a panel of drugs in order to identify genes whose deregulation is associated to drug resistanceThis data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

  Study EGAS00001000815

• Identification_of_drug_resistance_genes_in_melanoma_by_small_RNAs_expression_analysis

  We aim to sequence the small RNAs of 22 human melanoma cell lines in biological triplicate in order to define the microRNAs expression profile of each cell line. The data will be correlated to the mutation status and the sensitivity to a panel of drugs in order to identify genes whose deregulation is associated to drug resistanceThis data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

  Study EGAS00001000816

• Exome_sequencing_of_Congenital_Heart_Disease_families_Royal_Brompton

  This project aims to study at least 90 exomes from families with congenital heart disease. The samples have been selected at the Royal, Brompton Hospital in collaboration with Stuart Cook and Piers Daubeney. Ethic approval has been sought for in the UK and a HDMMC agreement for submitting these samples is in place at the WTSI. The phenotype we wil primarily focus our analysis is severe Left Ventricular Outflow Tract Obstructions (LVOTO) and Atrioventricular Septal Defect (AVSD). The indexed Agilent whole exome pulldown libraries will be sequenced on 75bp PE HiSeq (Illumina).

  Study EGAS00001000187

• Genome-wide SNP genotyping and DNA methylation epigenotyping of African rainforest hunter-gatherers and neighbouring agriculturalists

  The epigenomic landscape of the human genome, in particular DNA methylation, is increasingly recognised as an important driver of phenotypic diversity in health and disease. However, the impact that genetic variation and changes in lifestyle and ecological habitat have on this epigenetic mark remains unknown. To address this question, we analysed genome-wide SNP and DNA methylation profiles of 362 individuals from African populations of rainforest hunter-gatherers and sedentary farmers with different past and present lifestyles and ecologies.

  Study EGAS00001001066

• Genome-wide search to find the genetic elements underlying visual contour perception

  Contour integration is a key function of the visual system to deal with occlusion and discontinuity in natural scenes. The current study is the first one to investigate the genetic basis of this visual function in humans. A total of 2619 normal participants were tested on their ability to detect continuous contours embedded in a cluttered background with a standard psychophysical protocol. Multi-level genomic analysis was performed, involving heritability estimation based on single nucleotide polymorphism (SNP) and association testing at SNP and gene levels.

  Study EGAS00001003639

• Genomic Landscape of Pediatric Myelodysplastic Syndromes

  Pediatric myelodysplastic syndromes (MDS) are a rare disease and unlike their adult counterpart, very little is known about their genomic landscape. We characterized a cohort of patients from a single institution by whole exome sequencing, as well as a subset of patients by whole genome sequencing, RNA-sequencing and targeted deep sequencing. We found a spectrum of mutations, both somatic and germline, that are distinct from those observed in adult MDS. In turn, we observed mutations commonly observed in other pediatric myeloid tumors.

  Study EGAS00001002202

• The mutational landscape of primary central nervous system lymphoma (Hipo H050, A050, XD013)

  ]Primary lymphomas of the central nervous system (PCNSL) are diffuse large B-cell lymphomas (DLBCLs) which are confined to the central nervous system (CNS). Despite extensive research, the molecular alterations leading to PCNSL have not been fully elucidated. In order to provide a comprehensive description of the mutational landscape in PCNSL, we here performed integrative whole genome and transcriptome sequencing analysis of 51 lymphomas presenting in the CNS, including 42 EBV-negative PCNSL, 6 secondary CNS lymphomas (SCNSL) and 3 EBV+ CNSL.

  Study EGAS00001005339

• ImmunoAgeing_Longitudinal

  The objective is to establish whether immunosenescence is associated with the development of clonal haematopoiesis in a healthy ageing population. This will be addressed in collaboration with the European consortium running the ImmunoAgeing project (www.immunoageing.eu). Genomic DNA derived from the peripheral blood of 394 individuals at 3-5 time-points over a 20-year period will be analysed. RNA bait pulldown (Agilent) will be used to perform targeted sequencing of genes known to be recurrently mutated in myeloid malignancies The presence, size and nature of clonal haematopoiesis will be correlated with quantitative measures of immunosenescence.

  Study EGAS00001003183