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Article
Open AccessExome and immune cell score analyses reveal great variation within synchronous primary colorectal cancers
Approximately 4% of colorectal cancer (CRC) patients have at least two simultaneous cancers in the colon. Due to the shared environment, these synchronous CRCs (SCRCs) provide a unique setting to study colorec...
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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 AccessMED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas
Uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer (HLRCC) patients are driven by fumarate hydratase (FH) inactivation or occasionally by mediator complex subunit 12 (MED12) mutations. The ai...
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Article
3′-UTR poly(T/U) repeat of EWSR1 is altered in microsatellite unstable colorectal cancer with nearly perfect sensitivity
Approximately 15 % of colorectal cancers exhibit instability of short nucleotide repeat regions, microsatellites. These tumors display a unique clinicopathologic profile and the microsatellite instability stat...
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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 ...
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Article
Open AccessTowards structured output prediction of enzyme function
In this paper we describe work in progress in develo** kernel methods for enzyme function prediction. Our focus is in develo** so called structured output prediction methods, where the enzymatic reaction i...