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Article

A multi-dimensional integrative scoring framework for predicting functional variants in the human genome.

American journal of human genetics - 3 Mar 2022

Li Xihao, Yung Godwin, Zhou Hufeng, Sun Ryan, Li Zilin, Hou Kangcheng, Zhang Martin Jinye, Liu Yaowu, Arapoglou Theodore, Wang Chen, Ionita-Laza Iuliana, Lin Xihong

Abstract excerpt

Attempts to identify and prioritize functional DNA elements in coding and non-coding regions, particularly through use of in silico functional annotation data, continue to increase in popularity. However, specific functional roles can vary widely from one variant to another, making it challenging to summarize different aspects of variant function with a one-dimensional rating. Here we propose multi-dimensional...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35216679
DOI: 10.1016/j.ajhg.2022.01.017
PMCID: PMC8948160

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