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Predicted Molecular Effects of Sequence Variants Link to System Level of Disease

Developments in experimental and computational biology are advancing our understanding of how protein sequence variation impacts molecular protein function. However, the leap from the micro level of molecular function to the macro level of the whole …

Protein function in precision medicine: deep understanding with machine learning

Precision medicine and personalized health efforts propose leveraging complex molecular, medical and family history, along with other types of personal data toward better life. We argue that this ambitious objective will require advanced and …

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

SNP-SIG 2013: the state of the art of genomic variant interpretation.

Contact:  yanab@rci.rutgers.edu or emidio@uab.edu .