As genome sequencing has become cheaper and research into its use in the clinic has advanced, clinicians have increased the use of sequencing results to diagnose and treat genetic diseases. Effective clinical care is enabled by the annotation of genetic variants, including an accurate prediction of any pathogenic effects and the prioritization of these annotations. The goal of this project is to provide clinicians and clinical researchers with a recommendation for an ensemble algorithm that is accurate in its predictions for pathogenicity and deleteriousness, satisfies clinical standards, and is compatible with clinical data. This paper presents a comparative analysis of existing variant prioritization methods for pathogenicity. A dataset of variants annotated for pathogenicity by clinicians is used to compare predictions of pathogenicity from methods and algorithms to determine accuracy and suitability for clinical settings.

• This report represents the work of one or more WPI undergraduate students submitted to the faculty as evidence of completion of a degree requirement. WPI routinely publishes these reports on its website without editorial or peer review.

Creator

• Regan, Ilona M.

Publisher

• Worcester Polytechnic Institute

Identifier

• E-project-101620-213548
• 4551

Keyword

• algorithm
• variant
• comparative analysis
• genomics

Advisor

• Korkin, Dmitry

Year

• 2020

Center

• MITRE-Bedford, Massachusetts Project Center - MQP

Sponsor

• The MITRE Corporation

Date created

• 2020-10-16

Resource type

• Major Qualifying Project

Major

• Bioinformatics & Computational Biology

Rights statement

• In Copyright

License

• All rights reserved

Last modified

• 2021-05-25