Leveraging base-pair mammalian constraint to understand genetic variation and human disease
Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …
attempts to elucidate biological mechanisms are impeded by an inability to discern which …
Functional characterization of Alzheimer's disease genetic variants in microglia
Candidate cis-regulatory elements (cCREs) in microglia demonstrate the most substantial
enrichment for Alzheimer's disease (AD) heritability compared to other brain cell types …
enrichment for Alzheimer's disease (AD) heritability compared to other brain cell types …
Shared genetic risk loci between Alzheimer's disease and related dementias, Parkinson's disease, and amyotrophic lateral sclerosis
Background Genome-wide association studies (GWAS) have indicated moderate genetic
overlap between Alzheimer's disease (AD) and related dementias (ADRD), Parkinson's …
overlap between Alzheimer's disease (AD) and related dementias (ADRD), Parkinson's …
Genetic variants associated with hidradenitis suppurativa
Q Sun, KA Broadaway, SN Edmiston… - JAMA …, 2023 - jamanetwork.com
Importance Hidradenitis suppurativa (HS) is a common and severely morbid chronic
inflammatory skin disease that is reported to be highly heritable. However, the genetic …
inflammatory skin disease that is reported to be highly heritable. However, the genetic …
Molecular and genetic insights into human ovarian aging from single-nuclei multi-omics analyses
The ovary is the first organ to age in the human body, affecting both fertility and overall
health. However, the biological mechanisms underlying human ovarian aging remain poorly …
health. However, the biological mechanisms underlying human ovarian aging remain poorly …
Understanding the function of regulatory DNA interactions in the interpretation of non-coding GWAS variants
Genome-wide association studies (GWAS) have identified a vast number of variants
associated with various complex human diseases and traits. However, most of these GWAS …
associated with various complex human diseases and traits. However, most of these GWAS …
Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-differential effects via GAUDI
Polygenic risk scores (PRS) have shown successes in clinics, but most PRS methods focus
only on participants with distinct primary continental ancestry without accommodating …
only on participants with distinct primary continental ancestry without accommodating …
Eye-brain connections revealed by multimodal retinal and brain imaging genetics
The retina, an anatomical extension of the brain, forms physiological connections with the
visual cortex of the brain. Although retinal structures offer a unique opportunity to assess …
visual cortex of the brain. Although retinal structures offer a unique opportunity to assess …
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 …
Unveiling the genetic landscape of coronary artery disease through common and rare structural variants
Background Genome‐wide association studies have identified several hundred
susceptibility single nucleotide variants for coronary artery disease (CAD). Despite single …
susceptibility single nucleotide variants for coronary artery disease (CAD). Despite single …