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Fingerprinting cities: differentiating subway microbiome functionality

Accumulating evidence suggests that the human microbiome impacts individual and public health. City subway systems are human-dense environments, where passengers often exchange microbes. The MetaSUB project participants collected samples from subway …

Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants

Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer

Abstract The availability of disease-specific genomic data is critical for developing new computational methods that predict the pathogenicity of human variants and advance the field of precision medicine. However, the lack of gold standards to …

Assessment of methods for predicting the effects of PTEN and TPMT protein variants

Abstract Thermodynamic stability is a fundamental property shared by all proteins. Changes in stability due to mutation are a widespread molecular mechanism in genetic diseases. Methods for the prediction of mutation-induced stability change have …

Assessment of predicted enzymatic activity of $α$-N-acetylglucosaminidase variants of unknown significance for CAGI 2016

funtrp: identifying protein positions for variation driven functional tuning

Evaluating the impact of non-synonymous genetic variants is essential for uncovering disease associations and mechanisms of evolution. An in-depth understanding of sequence changes is also fundamental for synthetic protein design and stability …

Identifying Crohn's disease signal from variome analysis

After years of concentrated research efforts, the exact cause of Crohn's disease (CD) remains unknown. Its accurate diagnosis, however, helps in management and preventing the onset of disease. Genome-wide association studies have identified 241 CD …

Identifying mutation-driven changes in gene functionality that lead to venous thromboembolism

Interaction between dietary vitamin A, gut microbes, and host vitamin A status

Micronutrient deficiency during childhood, impairs microbiome development and establishment, ultimately affecting nutrient absorption and promoting inflammatory responses, especially in the gut, in a sort of vicious cycle1. Vitamin A is an essential …

ISMB/ECCB 2019 Proceedings