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Virginia Tech

Benchmarking Methods For Predicting Phenotype Gene Associations

Abstract

dc:description.abstract

Assigning human genes to diseases and related phenotypes is an important topic in modern genomics. Human Phenotype Ontology (HPO) is a standardized vocabulary of phenotypic abnormalities that occur in human diseases. Computational methods such as label-propagation and supervised-learning address challenges posed by traditional approaches such as manual curation to link genes to phenotypes in the HPO. It is only in recent years that computational methods have been applied in a network-based approach for predicting genes to disease-related phenotypes. In this thesis, we present an extensive benchmarking of various computational methods for the task of network-based gene classification. These methods are evaluated on multiple protein interaction networks and feature representations. We empirically evaluate the performance of multiple prediction tasks using two evaluation experiments: cross-fold validation and the more stringent temporal holdout. We demonstrate that all of the prediction methods considered in our benchmarking analysis have similar performance, with each of the methods outperforming a random predictor.

Degree

thesis:*
Name thesis:degree_name
Master of Science
Level thesis:degree_level
masters
Discipline thesis:degree_discipline
Computer Science and Applications
Department dc:contributor.department
Computer Science
Grantor dc:publisher
Virginia Tech
Year dc:date.issued
2020

Author and committee

dc:creator, dc:contributor.*
Author dc:creator
  • Tyagi, Tanya
Chair dc:contributor.committeechair
  • Murali, T. M.
Committee members dc:contributor.committeemember
  • Heath, Lenwood S.
  • Karpatne, Anuj

Subjects

dc:subject × 4

Rights

dc:rights
Statement dc:rights
  • In Copyright

Identifiers

dc:identifier.*
Dc Identifier Other
vt_gsexam:27381
OAI identifier oai:identifier
oai:vtechworks.lib.vt.edu:10919/109304

Chain of custody

source
Harvested from
Virginia Tech
Base URL
vtechworks.lib.vt.edu/oai/request
Last updated
2026-07-22
Source record
OAI-PMH GetRecord
citation

Tyagi, Tanya. Benchmarking Methods For Predicting Phenotype Gene Associations. masters thesis, Virginia Tech, 2020. http://hdl.handle.net/10919/109304