Innovative strategies for annotating the “relationSNP” between variants and molecular phenotypes

Abstract Characterizing how variation at the level of individual nucleotides contributes to traits and diseases has been an area of growing interest since the completion of sequencing the first human genome. Our understanding of how a single nucleotide polymorphism (SNP) leads to a pathogenic phenot...

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Bibliographic Details
Main Authors: Jason E. Miller, Yogasudha Veturi, Marylyn D. Ritchie
Format: Article
Language:English
Published: BMC 2019-05-01
Series:BioData Mining
Subjects:
SNP
Online Access:http://link.springer.com/article/10.1186/s13040-019-0197-9