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VarI-SIG 2015: methods for personalized medicine – the role of variant interpretation in research and diagnostics

COMPUTATIONAL APPROACHES TO STUDY MICROBES AND MICROBIOMES.

Technological advances are making large-scale measurements of microbial communities commonplace. These newly acquired datasets are allowing researchers to ask and answer questions about the composition of microbial communities, the roles of members …

Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is characterized by an irreversible airflow limitation in response to inhalation of noxious stimuli, such as cigarette smoke. However, only 15-20 % smokers manifest COPD, suggesting a role for …

From mesophilic to thermophilic digestion: the transitions of anaerobic bacterial, archaeal, and fungal community structures in sludge and manure samples

The shift of microbial communities during a transition from mesophilic anaerobic digestion (MAD) to thermophilic anaerobic digestion (TAD) was characterized in two treatments. One treatment was inoculated with sludge and the other was inoculated with …

Functional Basis of Microorganism Classification

Correctly identifying nearest "neighbors" of a given microorganism is important in industrial and clinical applications where close relationships imply similar treatment. Microbial classification based on similarity of physiological and genetic …

Better prediction of functional effects for sequence variants

Elucidating the effects of naturally occurring genetic variation is one of the major challenges for personalized health and personalized medicine. Here, we introduce SNAP2, a novel neural network based classifier that improves over the …

VarI-SIG 2014 - From SNPs to variants: interpreting different types of genetic variants

PredictProtein—an open resource for online prediction of protein structural and functional features

PredictProtein is a meta-service for sequence analysis that has been predicting structural and functional features of proteins since 1992. Queried with a protein sequence it returns: multiple sequence alignments, predicted aspects of structure …

SNP-SIG 2013: from coding to non-coding - new approaches for genomic variant interpretation

Evolutionary history of redox metal-binding domains across the tree of life

Oxidoreductases mediate electron transfer (i.e., redox) reactions across the tree of life and ultimately facilitate the biologically driven fluxes of hydrogen, carbon, nitrogen, oxygen, and sulfur on Earth. The core enzymes responsible for these …