Scientific Publications
Search results for "Mungall KL"
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...
2013/07/01
Complete genomic landscape of a recurring sporadic parathyroid carcinoma.Parathyroid carcinoma is a rare endocrine malignancy with an estimated incidence of less than 1 per million population. Excessive secretion of parathyroid hormone, extremely high serum calcium level, ...
2013/06/07
Complete genomic landscape of a recurring sporadic parathyroid carcinoma.Parathyroid carcinoma is a rare endocrine malignancy with an estimated incidence of less than 1 per million population. Excessive secretion of parathyroid hormone, extremely high serum calcium level, ...
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...
2013/04/01
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...
2012/10/12
Recurrent targets of aberrant somatic hypermutation in lymphoma.Somatic hypermutation (SHM) in the variable region of immunoglobulin genes (IGV) naturally occurs in a narrow window of B cell development to provide high-affinity antibodies. However, SHM can also ab...
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 ...
2012/07/15
BreakFusion: targeted assembly-based identification of gene fusions in whole transcriptome paired-end sequencing data.Despite recent progress, computational tools that identify gene fusions from next-generation whole transcriptome sequencing data are often limited in accuracy and scalability. Here, we present a softw...
2012/05/24
TBL1XR1/TP63: a novel recurrent gene fusion in B-cell non-Hodgkin lymphoma.Recently, the landscape of single base mutations in diffuse large B-cell lymphoma (DLBCL) was described. Here we report the discovery of a gene fusion between TBL1XR1 and TP63, the only recurrent soma...
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...