Recent submissions
Now showing items 281-300 of 525
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The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance.
(2018-01)Next generation sequencing (NGS) is routinely used in clinical genetic testing. Quality management of NGS testing is essential to ensure performance is consistently and rigorously evaluated. Three primary metrics are used ... -
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series.
(2018-01)Evaluating, optimising and benchmarking of next generation sequencing (NGS) variant calling performance are essential requirements for clinical, commercial and academic NGS pipelines. Such assessments should be performed ... -
Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.
(WILEY, 2018-02-01)Genome-wide association studies have been successful in elucidating the genetic basis of colorectal cancer (CRC), but there remains unexplained variability in genetic risk. To identify new risk variants and to confirm ... -
Regions of homozygosity as risk factors for multiple myeloma.
(WILEY, 2019-07-01)Genomic regions of homozygosity (ROH), detectable in outbred populations, have been implicated as determinants of inherited risk. To examine whether ROH is associated with risk of multiple myeloma (MM), we performed ... -
Exploring causality in the association between circulating 25-hydroxyvitamin D and colorectal cancer risk: a large Mendelian randomisation study.
(BMC, 2018-08-14)BACKGROUND: Whilst observational studies establish that lower plasma 25-hydroxyvitamin D (25-OHD) levels are associated with higher risk of colorectal cancer (CRC), establishing causality has proven challenging. Since ... -
Circulating vitamin D concentration and risk of seven cancers: Mendelian randomisation study.
(BMJ PUBLISHING GROUP, 2017-10-31)Objective To determine if circulating concentrations of vitamin D are causally associated with risk of cancer.Design Mendelian randomisation study.Setting Large genetic epidemiology networks (the Genetic Associations and ... -
Circulating vitamin D concentrations and risk of breast and prostate cancer: a Mendelian randomization study.
(OXFORD UNIV PRESS, 2019-10-01)BACKGROUND: Observational studies have suggested an association between circulating vitamin D concentrations [25(OH)D] and risk of breast and prostate cancer, which was not supported by a recent Mendelian randomization ... -
Whole-genome sequencing of multiple myeloma reveals oncogenic pathways are targeted somatically through multiple mechanisms.
(2018-11)Multiple myeloma (MM) is a biologically heterogeneous malignancy, however, the mechanisms underlying this complexity are incompletely understood. We report an analysis of the whole-genome sequencing of 765 MM patients from ... -
Bromodomain protein 4 discriminates tissue-specific super-enhancers containing disease-specific susceptibility loci in prostate and breast cancer.
(BIOMED CENTRAL LTD, 2017-03-31)BACKGROUND: Epigenetic information can be used to identify clinically relevant genomic variants single nucleotide polymorphisms (SNPs) of functional importance in cancer development. Super-enhancers are cell-specific DNA ... -
The Intracranial Distribution of Gliomas in Relation to Exposure From Mobile Phones: Analyses From the INTERPHONE Study.
(OXFORD UNIV PRESS INC, 2016-12-01)When investigating the association between brain tumors and use of mobile telephones, accurate data on tumor position are essential, due to the highly localized absorption of energy in the human brain from the radio-frequency ... -
Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes.
(COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT, 2018-11-01)Most expression quantitative trait locus (eQTL) studies to date have been performed in heterogeneous tissues as opposed to specific cell types. To better understand the cell-type-specific regulatory landscape of human ... -
A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk.
(AMER ASSOC CANCER RESEARCH, 2018-09-15)Large-scale genome-wide association studies (GWAS) have identified approximately 35 loci associated with epithelial ovarian cancer (EOC) risk. The majority of GWAS-identified disease susceptibility variants are located in ... -
Brain and Salivary Gland Tumors and Mobile Phone Use: Evaluating the Evidence from Various Epidemiological Study Designs.
(ANNUAL REVIEWS, 2019-04-01)Mobile phones (MPs) are the most relevant source of radiofrequency electromagnetic field (RF-EMF) exposure to the brain and the salivary gland. Whether this exposure implies a cancer risk has been addressed in several ... -
Transcriptome-Wide Association Study Identifies New Candidate Susceptibility Genes for Glioma.
(AMER ASSOC CANCER RESEARCH, 2019-04-15)Genome-wide association studies (GWAS) have so far identified 25 loci associated with glioma risk, with most showing specificity for either glioblastoma (GBM) or non-GBM tumors. The majority of these GWAS susceptibility ... -
Mendelian randomisation: A powerful and inexpensive method for identifying and excluding non-genetic risk factors for colorectal cancer.
(ELSEVIER, 2019-10-01)Colorectal cancer (CRC) is the third most common cancer in economically developed countries and a major cause of cancer-related mortality. The importance of lifestyle and diet as major determinants of CRC risk is suggested ... -
Genome-wide association study of anti-Müllerian hormone levels in pre-menopausal women of late reproductive age and relationship with genetic determinants of reproductive lifespan.
(OXFORD UNIV PRESS, 2019-04-15)Anti-Müllerian hormone (AMH) is required for sexual differentiation in the fetus, and in adult females AMH is produced by growing ovarian follicles. Consequently, AMH levels are correlated with ovarian reserve, declining ... -
Shared heritability and functional enrichment across six solid cancers.
(NATURE PORTFOLIO, 2019-01-25)Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total ... -
Genetic susceptibility to radiation-induced breast cancer after Hodgkin lymphoma.
(AMER SOC HEMATOLOGY, 2019-03-07)Female Hodgkin lymphoma (HL) patients treated with chest radiotherapy (RT) have a very high risk of breast cancer. The contribution of genetic factors to this risk is unclear. We therefore examined 211 155 germline ... -
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
(WILEY-HINDAWI, 2018-05-01)Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and digital PCR ... -
Mendelian randomization provides support for obesity as a risk factor for meningioma.
(NATURE PORTFOLIO, 2019-01-22)Little is known about the causes of meningioma. Obesity and obesity-related traits have been reported in several epidemiological observational studies to be risk factors for meningioma. We performed an analysis of genetic ...