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Large-scale Sequencing of Testicular Germ Cell Tumour (TGCT) Cases Excludes Major TGCT Predisposition Gene.
(2018-06)
Testicular germ cell tumour (TGCT), the most common cancer in young men, has a significant heritable basis that has long raised questions as to the existence of underlying major high-penetrance susceptibility gene(s). To ...
Association analysis identifies 65 new breast cancer risk loci.
(2017-11)
Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. ...
The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data.
(2017-01)
Detection of deletions and duplications of whole exons (exon CNVs) is a key requirement of genetic testing. Accurate detection of this variant type has proved very challenging in targeted next-generation sequencing (NGS) ...
CoverView: a sequence quality evaluation tool for next generation sequencing data.
(2018-01)
Quality assurance and quality control are essential for robust next generation sequencing (NGS). Here we present CoverView, a fast, flexible, user-friendly quality evaluation tool for NGS data. CoverView processes mapped ...
Focal amplification of the androgen receptor gene in hormone-naive human prostate cancer
(NATURE PUBLISHING GROUP, 2014-03-18)
Background: Androgen receptor (AR)-gene amplification, found in 20-30% of castration-resistant prostate cancer (CRPCa) is proposed to develop as a consequence of hormone-deprivation therapy and be a prime cause of treatment ...
A risk prediction algorithm based on family history and common genetic variants: application to prostate cancer with potential clinical impact.
(WILEY, 2011-07-18)
Genome wide association studies have identified several single nucleotide polymorphisms (SNPs) that are independently associated with small increments in risk of prostate cancer, opening up the possibility for using such ...
A case-control study of risk of leukaemia in relation to mobile phone use.
(NATURE PUBLISHING GROUP, 2010-11-23)
BACKGROUND: Mobile phone use is now ubiquitous, and scientific reviews have recommended research into its relation to leukaemia risk, but no large studies have been conducted. METHODS: In a case-control study in South East ...
Combined effects of endogenous sex hormone levels and mammographic density on postmenopausal breast cancer risk: results from the Breakthrough Generations Study.
(NATURE PUBLISHING GROUP, 2014-04-02)
BACKGROUND: Mammographic density and sex hormone levels are strong risk factors for breast cancer, but it is unclear whether they represent the same aetiological entity or are independent risk factors. METHODS: Within the ...