title: Exome-assistant: a rapid and easy detection of disease-related genes and genetic variations from exome sequencing.
abstract: BACKGROUND
  Protein-coding regions in human genes harbor 85% of the mutations that are associated with disease-related traits. Compared with whole-genome sequencing of complex samples, exome sequencing serves as an alternative option because of its dramatically reduced cost. In fact, exome sequencing has been successfully applied to identify the cause of several Mendelian disorders, such as Miller and Schinzel-Giedio syndrome. However, there remain great challenges in handling the huge data generated by exome sequencing and in identifying potential disease-related genetic variations.
  
  
  RESULTS
  In this study, Exome-assistant (http://122.228.158.106/exomeassistant), a convenient tool for submitting and annotating single nucleotide polymorphisms (SNPs) and insertion/deletion variations (InDels), was developed to rapidly detect candidate disease-related genetic variations from exome sequencing projects. Versatile filter criteria are provided by Exome-assistant to meet different users' requirements. Exome-assistant consists of four modules: the single case module, the two cases module, the multiple cases module, and the reanalysis module. The two cases and multiple cases modules allow users to identify sample-specific and common variations. The multiple cases module also supports family-based studies and Mendelian filtering. The identified candidate disease-related genetic variations can be annotated according to their sample features.
  
  
  CONCLUSIONS
  In summary, by exploring exome sequencing data, Exome-assistant can provide researchers with detailed biological insights into genetic variation events and permits the identification of potential genetic causes of human diseases and related traits.
authors.affiliation: Institute of Genomic Medicine, Wenzhou Medical College, Wenzhou 325035, China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Liu
authors.forename: Enjian
authors.initials: E
authors.lastname: Shen
authors.forename: Qingjie
authors.initials: Q
authors.lastname: Min
authors.forename: Xueying
authors.initials: X
authors.lastname: Li
authors.forename: Xin
authors.initials: X
authors.lastname: Wang
authors.forename: Xianfeng
authors.initials: X
authors.lastname: Li
authors.forename: Zhong Sheng
authors.initials: ZS
authors.lastname: Sun
authors.forename: Jinyu
authors.initials: J
authors.lastname: Wu
mesh_terms: D059472:Exome / Q000235:genetics*; D005787:Gene Frequency; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D058977:Molecular Sequence Annotation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000379:methods*; D012984:Software