Distributed Human Resource Redistribution System Based on Agent and Ontology

A computer system for human resource （HR） redistribution system is presented to solve the balance problem of the ＂surplus resources＂ and ＂surplus tasks＂ among a group of project units. The system architecture is designed in a compositional manner using the elements of agent technology and knowledge technology. A combination of generic agent models, ontology and knowledge provides an effective approach to address the dynamic, distributed and knowledge-intensive characters of the HR management. In the system, the broker agent acting as intermediary provides matchmaking services to the domain agents, and the individual domain agents communicate directly with each other. The HR ontology provides the semantic match of the surplus task and the surplus resource. Finally, an application example is presented to illustrate the achieved solution for a concrete scenario. This novel way offers a comprehensive HR exchange solution and is snitablc for both intra-organizational and inter-organizational HR management.

Genetic variant reanalysis reveals a case of Sandhoff disease with onset of infantile epileptic spasm syndrome

Background Sandhoff disease(SD)i s an autosomal recessive lysosomal disease with clinical manifestations such as epilepsy,psychomotor retardation and developmental delay.However,infantile SD with onset of infantile epilepsy spasm syndrome(IESS)is extremely rare.Case presentation The case presented here was a 22-month-old boy,who presented with IESS and psychomotor retardation/regression at 6 months of age.The patient showed progressive aggravation of seizures and excessive startle responses.The whole exome sequencing data,which initially revealed negative results,were reanalyzed and indicated a homozygous mutation at the c.1613+4del splice site of the HEXB gene.The activities ofβ-hexosaminidase A and total hexosaminidase were significantly decreased.The fundus examination showed cherry red spots at the macula.Conclusions IESS can be an epileptic phenotype of infantile SD.Clinical phenotypes should be adequately collected in genetic testing.In the case of negative sequencing results,gene variant reanalysis can be performed when the patients show clinically suspicious indications.

Computational Methods for Prediction of Human Protein-Phenotype Associations:A Review

Deciphering the relationship between human proteins(genes)and phenotypes is one of the fundamental tasks in phenomics research.The Human Phenotype Ontology(HPO)builds upon a standardized logical vocabulary to describe the abnormal phenotypes encountered in human diseases and paves the way towards the computational analysis of their genetic causes.To date,many computational methods have been proposed to predict the HPO annotations of proteins.In this paper,we conduct a comprehensive review of the existing approaches to predicting HPO annotations of novel proteins,identifying missing HPO annotations,and prioritizing candidate proteins with respect to a certain HPO term.For each topic,we first give the formalized description of the problem,and then systematically revisit the published literatures highlighting their advantages and disadvantages,followed by the discussion on the challenges and promising future directions.In addition,we point out several potential topics to be worthy of exploration including the selection of negative HPO annotations and detecting HPO misannotations.We believe that this review will provide insight to the researchers in the field of computational phenotype analyses in terms of comprehending and developing novel prediction algorithms.