GWAS Catalog - EMBL-EBI
Explore an interactive visualisation of all SNP-trait associations with genome-wide significance (p≤5 x10-8).
A guide to genome‐wide association analysis and post‐analytic ...
Sep 6, 2015 · The focus of this tutorial is on GWA analysis of common variants that involves testing association of each single nucleotide polymorphism (SNP) independently and subsequently characterizing findings through a variety of visual and analytic tools.
Genome-wide association studies | Nature Reviews Methods …
Aug 26, 2021 · GWAS can consider copy-number variants or sequence variations in the human genome, although the most commonly studied genetic variants in GWAS are single-nucleotide polymorphisms (SNPs).
Genome-wide association testing beyond SNPs - Nature
Oct 7, 2024 · Genome-wide association studies (GWAS) have shown remarkable potential to model genotype — typically SNPs — to phenotype relationships, using a simple additive assumption against both...
A comprehensive framework for trans-ancestry pathway analysis …
Oct 23, 2024 · Introduction. Genome-wide association studies (GWAS) have successfully identified tens of thousands of single nucleotide polymorphisms (SNPs) linked to complex traits [1–4].Historically, these studies have predominantly focused on populations of European origin, which limits the generalizability of their findings across global populations and restricts the …
mGWAS-Explorer: Linking SNPs, Genes, Metabolites, and Diseases …
Here, we introduce mGWAS-Explorer, a user-friendly web-based platform to help connect SNPs, metabolites, genes, and their known disease associations via powerful network visual analytics. The application of the mGWAS-Explorer was demonstrated using a COVID-19 and a type 2 diabetes case studies.
SNP CHARACTERISTICS AND VALIDATION SUCCESS IN GENOME …
Genome wide association studies (GWASs) have identified tens of thousands of single nucleotide polymorphisms (SNPs) associated with human diseases and characteristics. A significant fraction of GWAS findings can be false positives. The gold …
Multi-ancestry genome-wide association meta-analysis of …
Dec 28, 2023 · In brief, FUMA first identifies independent significant SNPs in the GWAS results by clumping all significant variants with the r 2 threshold <0.6, and then a locus is defined by merging LD...
GWASTool: A web pipeline for detecting SNP-phenotype …
Jul 1, 2024 · The genome-wide association study (GWAS) aims to detect associations between individual single nucleotide polymorphisms (SNPs) or SNP interactions and phenotypes to decipher the genetic mechanism. Existing GWAS analysis tools have different focuses and advantages, but suffer a series of tedious and heterogeneous configurations for computation.
SNPinfo: integrating GWAS and candidate gene information into ...
The program can also identify and choose tag SNPs for SNPs not in high LD with any GWAS SNP. We incorporate functional predictions of protein structure, gene regulation, splicing and miRNA binding, and consider whether the alternative alleles of a SNP are likely to have differential effects on function.
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