TY - JOUR
T1 - Demystifying non-coding GWAS variants
T2 - an overview of computational tools and methods
AU - Schipper, Marijn
AU - Posthuma, Danielle
N1 - © The Author(s) 2022. Published by Oxford University Press.
PY - 2022/10/15
Y1 - 2022/10/15
N2 - Genome-wide association studies (GWAS) have found the majority of disease-associated variants to be non-coding. Major efforts into the charting of the non-coding regulatory landscapes have allowed for the development of tools and methods which aim to aid in the identification of causal variants and their mechanism of action. In this review, we give an overview of current tools and methods for the analysis of non-coding GWAS variants in disease. We provide a workflow that allows for the accumulation of in silico evidence to generate novel hypotheses on mechanisms underlying disease and prioritize targets for follow-up study using non-coding GWAS variants. Lastly, we discuss the need for comprehensive benchmarks and novel tools for the analysis of non-coding variants.
AB - Genome-wide association studies (GWAS) have found the majority of disease-associated variants to be non-coding. Major efforts into the charting of the non-coding regulatory landscapes have allowed for the development of tools and methods which aim to aid in the identification of causal variants and their mechanism of action. In this review, we give an overview of current tools and methods for the analysis of non-coding GWAS variants in disease. We provide a workflow that allows for the accumulation of in silico evidence to generate novel hypotheses on mechanisms underlying disease and prioritize targets for follow-up study using non-coding GWAS variants. Lastly, we discuss the need for comprehensive benchmarks and novel tools for the analysis of non-coding variants.
KW - Follow-Up Studies
KW - Genetic Predisposition to Disease
KW - Genome-Wide Association Study/methods
KW - Humans
KW - Polymorphism, Single Nucleotide/genetics
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85146640819&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/35972862
U2 - https://doi.org/10.1093/hmg/ddac198
DO - https://doi.org/10.1093/hmg/ddac198
M3 - Review article
C2 - 35972862
SN - 0964-6906
VL - 31
SP - R73-R83
JO - Human Molecular Genetics
JF - Human Molecular Genetics
IS - R1
ER -