Systematic Pan-cancer Functional Inference and Validation of Hyper, Hypo and Neomorphic Mutations.

While the functional effects of many recurrent cancer mutations have been characterized, the TCGA repository comprises more than 10M non-recurrent events, whose function is unknown. We propose that the context specific activity of transcription factor (TF) proteins-as measured by expression of their transcriptional targets-provides a sensitive and accurate reporter assay to assess the functional role of oncoprotein mutations. Analysis of differentially active TFs in samples harboring mutations of unknown significance-compared to established gain (GOF/hypermorph) or loss (LOF/hypomorph) of function-helped functionally characterize 577,866 individual mutational events across TCGA cohorts, including identification of mutations that are either neomorphic (gain of novel function) or phenocopy other mutations ( ).

Genetic variants involved in innate immunity modulate the risk of inflammatory bowel diseases in an understudied Malaysian population.

Background And Aim: Inflammatory bowel diseases (IBD) are chronic gastrointestinal inflammatory conditions comprising two major subtypes: Crohn's disease (CD) and ulcerative colitis (UC). The incidence of IBD is increasing in Asian countries including Malaysia. The aim of this study was to determine whether 32 single nucleotide polymorphisms (SNPs) strongly associated with IBD from genome-wide association studies, performed mainly in Caucasian populations, are associated with IBD in a Malaysian population, correlating these findings with local and systemic inflammation.

Association of Auricular Reflective Points and Status of Type 2 Diabetes Mellitus: A Matched Case-Control Study.

The reflexive property of the ear can cause various physical attributes to appear on the auricle in the presence of bodily disorders. The association of auricular signals (presence or absence of discoloration, marks after pressing, tenderness, and electrical resistance) and diabetes mellitus (DM) should be further investigated because auricular diagnosis is an objective, painless, and noninvasive method that provides rapid access to information. A matched case-control study on 282 subjects was conducted.