[HTML][HTML] 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 …
[PDF][PDF] 15 years of GWAS discovery: realizing the promise
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …
Here, we review how this experimental design has realized its promise by facilitating an …
[HTML][HTML] Reproducible brain-wide association studies require thousands of individuals
Magnetic resonance imaging (MRI) has transformed our understanding of the human brain
through well-replicated mapping of abilities to specific structures (for example, lesion …
through well-replicated mapping of abilities to specific structures (for example, lesion …
[HTML][HTML] Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects
Estimates from genome-wide association studies (GWAS) of unrelated individuals capture
effects of inherited variation (direct effects), demography (population stratification …
effects of inherited variation (direct effects), demography (population stratification …
[HTML][HTML] A saturated map of common genetic variants associated with human height
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–
50% of phenotypic variation in human height, but identifying the specific variants and …
50% of phenotypic variation in human height, but identifying the specific variants and …
[HTML][HTML] A review of feature selection methods for machine learning-based disease risk prediction
N Pudjihartono, T Fadason, AW Kempa-Liehr… - Frontiers in …, 2022 - frontiersin.org
Machine learning has shown utility in detecting patterns within large, unstructured, and
complex datasets. One of the promising applications of machine learning is in precision …
complex datasets. One of the promising applications of machine learning is in precision …
[HTML][HTML] Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics
Genome-wide association studies provide a powerful means of identifying loci and genes
contributing to disease, but in many cases, the related cell types/states through which genes …
contributing to disease, but in many cases, the related cell types/states through which genes …
[HTML][HTML] Causal relationship between gut microbiota and cancers: a two-sample Mendelian randomisation study
Y Long, L Tang, Y Zhou, S Zhao, H Zhu - BMC medicine, 2023 - Springer
Background Evidence from observational studies and clinical trials suggests that the gut
microbiota is associated with cancer. However, the causal association between gut …
microbiota is associated with cancer. However, the causal association between gut …
webTWAS: a resource for disease candidate susceptibility genes identified by transcriptome-wide association study
The development of transcriptome-wide association studies (TWAS) has enabled
researchers to better identify and interpret causal genes in many diseases. However, there …
researchers to better identify and interpret causal genes in many diseases. However, there …
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 …