From genome-wide associations to candidate causal variants by statistical fine-map**
Advancing from statistical associations of complex traits with genetic markers to
understanding the functional genetic variants that influence traits is often a complex process …
understanding the functional genetic variants that influence traits is often a complex process …
Demystifying non-coding GWAS variants: an overview of computational tools and methods
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 …
variants to be non-coding. Major efforts into the charting of the non-coding regulatory …
[HTML][HTML] Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
S Van de Sompele, KW Small, MB Cicekdal… - The American Journal of …, 2022 - cell.com
North Carolina macular dystrophy (NCMD) is a rare autosomal-dominant disease affecting
macular development. The disease is caused by non-coding single-nucleotide variants …
macular development. The disease is caused by non-coding single-nucleotide variants …
VarCards2: an integrated genetic and clinical database for ACMG-AMP variant-interpretation guidelines in the human whole genome
VarCards, an online database, combines comprehensive variant-and gene-level annotation
data to streamline genetic counselling for coding variants. Recognising the increasing …
data to streamline genetic counselling for coding variants. Recognising the increasing …
GhostKnockoff inference empowers identification of putative causal variants in genome-wide association studies
Recent advances in genome sequencing and imputation technologies provide an exciting
opportunity to comprehensively study the contribution of genetic variants to complex …
opportunity to comprehensively study the contribution of genetic variants to complex …
regBase: whole genome base-wise aggregation and functional prediction for human non-coding regulatory variants
S Zhang, Y He, H Liu, H Zhai, D Huang… - Nucleic acids …, 2019 - academic.oup.com
Predicting the functional or pathogenic regulatory variants in the human non-coding genome
facilitates the interpretation of disease causation. While numerous prediction methods are …
facilitates the interpretation of disease causation. While numerous prediction methods are …
GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data
Non-coding variants have long been recognized as important contributors to common
disease risks, but with the expansion of clinical whole genome sequencing, examples of …
disease risks, but with the expansion of clinical whole genome sequencing, examples of …
Topologically associating domains define the impact of de novo promoter variants on autism spectrum disorder risk
T Nakamura, J Ueda, S Mizuno, K Honda, A Kazuno… - Cell Genomics, 2024 - cell.com
Whole-genome sequencing (WGS) studies of autism spectrum disorder (ASD) have
demonstrated the roles of rare promoter de novo variants (DNVs). However, most promoter …
demonstrated the roles of rare promoter de novo variants (DNVs). However, most promoter …
Performance comparison of computational methods for the prediction of the function and pathogenicity of non-coding variants
Non-coding variants in the human genome significantly influence human traits and complex
diseases via their regulation and modification effects. Hence, an increasing number of …
diseases via their regulation and modification effects. Hence, an increasing number of …
Exploiting deep transfer learning for the prediction of functional non-coding variants using genomic sequence
Motivation Though genome-wide association studies have identified tens of thousands of
variants associated with complex traits and most of them fall within the non-coding regions …
variants associated with complex traits and most of them fall within the non-coding regions …