Scientific Publications
Search results for "Moore R"
2017/02/15
RNA-Seq Analysis of Gene Expression, Viral Pathogen, and B-Cell/T-Cell Receptor Signatures in Complex Chronic Disease.Background. Chronic fatigue syndrome (CFS) remains poorly understood. Although infections are speculated to trigger the syndrome, a specific infectious agent and underlying pathophysiological mechani...
2017/01/23
Integrated genomic and molecular characterization of cervical cancer.Cervical cancer remains one of the leading causes of cancer-related deaths worldwide. Here we report the extensive molecular characterization of 228 primary cervical cancers, the largest comprehensive...
2013/08/15
Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing.Diffuse large B-cell lymphoma (DLBCL) is a genetically heterogeneous cancer composed of at least 2 molecular subtypes that differ in gene expression and distribution of mutations. Recently, applicatio...
2013/08/01
Functional DNA methylation differences between tissues, cell types, and across individuals discovered using the M&M algorithm.DNA methylation plays key roles in diverse biological processes such as X chromosome inactivation, transposable element repression, genomic imprinting, and tissue-specific gene expression. Sequencing-...
2013/07/04
Comprehensive molecular characterization of clear cell renal cell carcinoma.Genetic changes underlying clear cell renal cell carcinoma (ccRCC) include alterations in genes controlling cellular oxygen sensing (for example, VHL) and the maintenance of chromatin states (for exam...
2013/07/01
DNA hypomethylation within specific transposable element families associates with tissue-specific enhancer landscape.Transposable element (TE)-derived sequences comprise half of the human genome and DNA methylome and are presumed to be densely methylated and inactive. Examination of genome-wide DNA methylation statu...
2013/06/18
Distinct evolutionary trajectories of primary high-grade serous ovarian cancers revealed through spatial mutational profiling.High-grade serous ovarian cancer (HGSC) is characterized by poor outcome, often attributed to emergence of treatment-resistant sub-clones. We sought to measure the degree of genomic diversity within p...
2013/05/30
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.BACKGROUND: Many mutations that contribute to the pathogenesis of acute myeloid leukemia (AML) are undefined. The relationships between patterns of mutations and epigenetic phenotypes are not yet c...
2013/05/26
DNA hypomethylation within specific transposable element families associates with tissue-specific enhancer landscape.Transposable element (TE)-derived sequences comprise half of the human genome and DNA methylome and are presumed to be densely methylated and inactive. Examination of genome-wide DNA methylation statu...
2013/05/22
Assembling the 20 Gb white spruce (Picea glauca) genome from whole-genome shotgun sequencing data.White spruce (Picea glauca) is a dominant conifer of the boreal forests of North America, and providing genomics resources for this commercially valuable tree will help improve forest management and c...
2013/04/18
The E3 ubiquitin ligase UBR5 is recurrently mutated in mantle cell lymphoma.We have recently reported the application of RNAseq to mantle cell lymphoma (MCL) transcriptomes revealing recurrent mutations in NOTCH1. Here we describe the targeted resequencing of 18 genes mutated...
2013/04/01
The genetic landscape of high-risk neuroblastoma.Neuroblastoma is a malignancy of the developing sympathetic nervous system that often presents with widespread metastatic disease, resulting in survival rates of less than 50%. To determine the spectr...
2013/03/27
Draft genome of the mountain pine beetle, Dendroctonus ponderosae Hopkins, a major forest pest.Background:The mountain pine beetle, Dendroctonus ponderosae Hopkins, is the most serious insect pest of western North American pine forests. A recent outbreak destroyed more than 15 million hectares ...
2012/12/10
Derivation of HLA types from shotgun sequence datasets.ABSTRACT: The Human Leukocyte Antigen (HLA) is key to many aspects of human physiology and medicine. All current sequence-based HLA typing methodologies are targeted approaches requiring the amplifica...
2012/08/14
Genetic alterations activating kinase and cytokine receptor signaling in high-risk acute lymphoblastic leukemia.Genomic profiling has identified a subtype of high-risk B-progenitor acute lymphoblastic leukemia (B-ALL) with alteration of IKZF1, a gene expression profile similar to BCR-ABL1-positive ALL and poor ...
2012/08/02
Subgroup-specific structural variation across 1,000 medulloblastoma genomes.Medulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain radiation, and aggressive chemotherapy. As ...
2012/02/01
Fusobacterium nucleatum infection is prevalent in human colorectal carcinoma.An estimated 15% or more of the cancer burden worldwide is attributable to known infectious agents. We screened colorectal carcinoma and matched normal tissue specimens using RNA-seq followed by host ...
2012/01/17
Novel mRNA isoforms and mutations of uridine monophosphate synthetase and 5-fluorouracil resistance in colorectal cancer.The drug fluorouracil (5-FU) is a widely used antimetabolite chemotherapy in the treatment of colorectal cancer. The gene uridine monophosphate synthetase (UMPS) is thought to be primarily responsible...
2012/01/13
Mutations in EZH2 cause Weaver syndrome.We used trio-based whole-exome sequencing to analyze two families affected by Weaver syndrome, including one of the original families reported in 1974. Filtering of rare variants in the affected proba...
2012/01/01
Concurrent CIC mutations, IDH mutations, and 1p/19q loss distinguish oligodendrogliomas from other cancers.Oligodendroglioma is characterized by unique clinical, pathological, and genetic features. Recurrent losses of chromosomes 1p and 19q are strongly associated with this brain cancer but knowledge of th...