Genetic variation across and within individuals
Germline variation and somatic mutation are intricately connected and together shape
human traits and disease risks. Germline variants are present from conception, but they vary …
human traits and disease risks. Germline variants are present from conception, but they vary …
RAVAR: a curated repository for rare variant–trait associations
Rare variants contribute significantly to the genetic causes of complex traits, as they can
have much larger effects than common variants and account for much of the missing …
have much larger effects than common variants and account for much of the missing …
Accurate and efficient estimation of local heritability using summary statistics and the linkage disequilibrium matrix
Existing SNP-heritability estimators that leverage summary statistics from genome-wide
association studies (GWAS) are much less efficient (ie, have larger standard errors) than the …
association studies (GWAS) are much less efficient (ie, have larger standard errors) than the …
Integration of variant annotations using deep set networks boosts rare variant association testing
Rare genetic variants can have strong effects on phenotypes, yet accounting for rare
variants in genetic analyses is statistically challenging due to the limited number of allele …
variants in genetic analyses is statistically challenging due to the limited number of allele …
A power-based sliding window approach to evaluate the clinical impact of rare genetic variants in the nucleotide sequence or the spatial position of the folded protein
Systematic determination of novel variant pathogenicity remains a major challenge, even
when there is an established association between a gene and phenotype. Here we present …
when there is an established association between a gene and phenotype. Here we present …
An in-depth association analysis of genetic variants within nicotine-related loci: Meeting in middle of GWAS and genetic fine-mapping
In the last two decades of Genome-wide association studies (GWAS), nicotine-dependence-
related genetic loci (eg, nicotinic acetylcholine receptor–nAChR subunit genes) are among …
related genetic loci (eg, nicotinic acetylcholine receptor–nAChR subunit genes) are among …
Enhancing prediction accuracy of coronary artery disease through machine learning-driven genomic variant selection
Z Alireza, M Maleeha, M Kaikkonen… - Journal of Translational …, 2024 - Springer
Abstract Machine learning (ML) methods are increasingly becoming crucial in genome-wide
association studies for identifying key genetic variants or SNPs that statistical methods might …
association studies for identifying key genetic variants or SNPs that statistical methods might …
Integrating Common and Rare Variants Improves Polygenic Risk Prediction Across Diverse Populations
Polygenic risk scores (PRS) predict complex traits by aggregating genetic effects across the
genome, yet most models focus on common variants, overlooking rare variants that may …
genome, yet most models focus on common variants, overlooking rare variants that may …
Re-analysis and meta-analysis of summary statistics from gene–environment interaction studies
DT Pham, KE Westerman, C Pan, L Chen… - …, 2023 - academic.oup.com
Motivation Summary statistics from genome-wide association studies enable many valuable
downstream analyses that are more efficient than individual-level data analysis while also …
downstream analyses that are more efficient than individual-level data analysis while also …
Non-coding rare variant associations with blood traits on 166 740 UK Biobank genomes
DM Ribeiro, O Delaneau - bioRxiv, 2023 - biorxiv.org
Large biobanks with whole-genome sequencing now enable the association of non-coding
rare variants with complex human traits. Given that> 98% of the genome is available for …
rare variants with complex human traits. Given that> 98% of the genome is available for …