title: Pathway-based analysis of genomic variation data.
abstract: A holy grail of genetics is to decipher the mapping from genotype to phenotype. Recent advances in sequencing technologies allow the efficient genotyping of thousands of individuals carrying a particular phenotype in an effort to reveal its genetic determinants. However, the interpretation of these data entails tackling significant statistical and computational problems that stem from the complexity of human phenotypes and the huge genotypic search space. Recently, an alternative pathway-level analysis has been employed to combat these problems. In this review we discuss these developments, describe the challenges involved and outline possible solutions and future directions for improvement.
authors.affiliation: Blavatnik School of Computer Science, Tel Aviv University, Tel Aviv 69978, Israel.
authors.forename: Nir
authors.initials: N
authors.lastname: Atias
authors.forename: Sorin
authors.initials: S
authors.lastname: Istrail
authors.forename: Roded
authors.initials: R
authors.lastname: Sharan
mesh_terms: D019295:Computational Biology / Q000379:methods*; D053263:Gene Regulatory Networks; D055106:Genome-Wide Association Study / Q000379:methods*; D005838:Genotype; D006801:Humans; D008957:Models, Genetic; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D015398:Signal Transduction / Q000235:genetics*