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Updated: May 6, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Pathway-based analysis of genomic variation data
Nir Atias1, Sorin Istrail, Roded Sharan
1Blavatnik School of Computer Science, Tel Aviv University, Tel Aviv 69978, Israel.
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.
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