Challenges and progress in interpretation of non-coding genetic variants associated with human disease
Genome-wide association studies have shown that the far majority of disease-associated
variants reside in the non-coding regions of the genome, suggesting that gene regulatory …
variants reside in the non-coding regions of the genome, suggesting that gene regulatory …
Decoding polygenic diseases: advances in noncoding variant prioritization and validation
IM Chin, ZA Gardell, MR Corces - Trends in Cell Biology, 2024 - cell.com
Genome-wide association studies (GWASs) provide a key foundation for elucidating the
genetic underpinnings of common polygenic diseases. However, these studies have …
genetic underpinnings of common polygenic diseases. However, these studies have …
Demystifying non-coding GWAS variants: an overview of computational tools and methods
M Schipper, D Posthuma - Human molecular genetics, 2022 - academic.oup.com
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 …
The post-GWAS era: from association to function
MD Gallagher, AS Chen-Plotkin - The American Journal of Human …, 2018 - cell.com
During the past 12 years, genome-wide association studies (GWASs) have uncovered
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …
Identifying causal variants and genes using functional genomics in specialized cell types and contexts
B Liu, SB Montgomery - Human genetics, 2020 - Springer
A central goal in human genetics is the identification of variants and genes that influence the
risk of polygenic diseases. In the past decade, genome-wide association studies (GWAS) …
risk of polygenic diseases. In the past decade, genome-wide association studies (GWAS) …
Genome-wide association studies: potential next steps on a genetic journey
MI McCarthy, JN Hirschhorn - Human molecular genetics, 2008 - academic.oup.com
Genome-wide association studies have successfully identified numerous loci at which
common variants influence disease risk or quantitative traits. Despite these successes, the …
common variants influence disease risk or quantitative traits. Despite these successes, the …
Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression
M Cavalli, G Pan, H Nord, O Wallerman, E Wallén Arzt… - Human genetics, 2016 - Springer
Genome-wide association studies (GWAS) have identified a large number of disease-
associated SNPs, but in few cases the functional variant and the gene it controls have been …
associated SNPs, but in few cases the functional variant and the gene it controls have been …
Finding Needles in the Haystack: Strategies for Uncovering Noncoding Regulatory Variants
Despite accumulating evidence implicating noncoding variants in human diseases,
unraveling their functionality remains a significant challenge. Systematic annotations of the …
unraveling their functionality remains a significant challenge. Systematic annotations of the …
Functional characterization of genetic variant effects on expression
ED Flynn, T Lappalainen - Annual Review of Biomedical Data …, 2022 - annualreviews.org
Thousands of common genetic variants in the human population have been associated with
disease risk and phenotypic variation by genome-wide association studies (GWAS) …
disease risk and phenotypic variation by genome-wide association studies (GWAS) …
Laying a solid foundation for Manhattan–'setting the functional basis for the post-GWAS era'
Genome-wide association studies (GWAS) have identified more than 8900 genetic variants,
mainly single-nucleotide polymorphisms (SNPs), associated with hundreds of human traits …
mainly single-nucleotide polymorphisms (SNPs), associated with hundreds of human traits …