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Article
Open AccessSequence determinants of human gene regulatory elements
DNA can determine where and when genes are expressed, but the full set of sequence determinants that control gene expression is unknown. Here, we measured the transcriptional activity of DNA sequences that rep...
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Article
Candidate susceptibility variants in angioimmunoblastic T-cell lymphoma
Angioimmunoblastic T-cell lymphoma (AITL) is a subtype of peripheral T-cell lymphoma with a poor prognosis: the 5-year survival rate is approximately 30%. Somatic driver mutations have been found in TET2, IDH2, D...
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Article
Open AccessGlobal metabolomic profiling of uterine leiomyomas
Uterine leiomyomas can be classified into molecularly distinct subtypes according to their genetic triggers: MED12 mutations, HMGA2 upregulation, or inactivation of FH. The aim of this study was to identify metab...
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Article
Open AccessMendelian randomisation analysis strongly implicates adiposity with risk of develo** colorectal cancer
Observational studies have associated adiposity with an increased risk of colorectal cancer (CRC). However, such studies do not establish a causal relationship. To minimise bias from confounding we performed a...
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Article
CTCF/cohesin-binding sites are frequently mutated in cancer
Lauri Aaltonen, Jussi Taipale and colleagues report frequent mutation of CTCF- and cohesin-binding sites (CBSs) in multiple cancer types. They find that the frequency of CBS mutations in microsatellite-stable ...