A power-based sliding window approach to evaluate the clinical impact of rare genetic variants in the nucleotide sequence or the spatial position of the folded protein

A power-based sliding window approach to evaluate the clinical impact of rare genetic variants in the nucleotide sequence or the spatial position of the folded protein

Summary: Systematic determination of novel variant pathogenicity remains a major challenge, even when there is an established association between a gene and phenotype. Here we present Power Window (PW), a sliding window technique that identifies the impactful regions of a gene using population-scale...

Full description

Bibliographic Details
Main Authors: Elizabeth T. Cirulli, Kelly M. Schiabor Barrett, Alexandre Bolze, Daniel P. Judge, Pamala A. Pawloski, Joseph J. Grzymski, William Lee, Nicole L. Washington
Format: Article
Language:English
Published: Elsevier 2024-07-01
Series:HGG Advances
Subjects:
rare variants
sliding window
genetic analysis
Online Access:http://www.sciencedirect.com/science/article/pii/S266624772400023X

Internet

http://www.sciencedirect.com/science/article/pii/S266624772400023X

Similar Items