Genome-wide association studies
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …
across many genomes to find those statistically associated with a specific trait or disease …
The role of epigenetic in dental and oral regenerative medicine by different types of dental stem cells: a comprehensive overview
A Hussain, H Tebyaniyan… - Stem cells international, 2022 - Wiley Online Library
Postnatal teeth, wisdom teeth, and exfoliated deciduous teeth can be harvested for dental
stem cell (DSC) researches. These mesenchymal stem cells (MSCs) can differentiate and …
stem cell (DSC) researches. These mesenchymal stem cells (MSCs) can differentiate and …
Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci
Genome-wide association studies (GWASs) have identified many variants associated with
complex traits, but identifying the causal gene (s) is a major challenge. In the present study …
complex traits, but identifying the causal gene (s) is a major challenge. In the present study …
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor
subtype,–. To identify novel loci, we performed a genome-wide association study including …
subtype,–. To identify novel loci, we performed a genome-wide association study including …
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
N Wilcox, M Dumont, A González-Neira, S Carvalho… - Nature …, 2023 - nature.com
Linkage and candidate gene studies have identified several breast cancer susceptibility
genes, but the overall contribution of coding variation to breast cancer is unclear. To …
genes, but the overall contribution of coding variation to breast cancer is unclear. To …
CARMA is a new Bayesian model for fine-mapping in genome-wide association meta-analyses
Fine-mapping is commonly used to identify putative causal variants at genome-wide
significant loci. Here we propose a Bayesian model for fine-mapping that has several …
significant loci. Here we propose a Bayesian model for fine-mapping that has several …
High-throughput PRIME-editing screens identify functional DNA variants in the human genome
Despite tremendous progress in detecting DNA variants associated with human disease,
interpreting their functional impact in a high-throughput and single-base resolution manner …
interpreting their functional impact in a high-throughput and single-base resolution manner …
Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p
The canonical paradigm for converting genetic association to mechanism involves iteratively
mapping individual associations to the proximal genes through which they act. In contrast, in …
mapping individual associations to the proximal genes through which they act. In contrast, in …
Personalized risk assessment for prevention and early detection of breast cancer: integration and implementation (PERSPECTIVE I&I)
Early detection of breast cancer through screening reduces breast cancer mortality. The
benefits of screening must also be considered within the context of potential harms (eg, false …
benefits of screening must also be considered within the context of potential harms (eg, false …