Single-cell atlas reveals correlates of high cognitive function, dementia, and resilience to Alzheimer's disease pathology
Alzheimer's disease (AD) is the most common cause of dementia worldwide, but the
molecular and cellular mechanisms underlying cognitive impairment remain poorly …
molecular and cellular mechanisms underlying cognitive impairment remain poorly …
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …
Recent advances and challenges of rare variant association analysis in the biobank sequencing era
Causal variants for rare genetic diseases are often rare in the general population. Rare
variants may also contribute to common complex traits and can have much larger per-allele …
variants may also contribute to common complex traits and can have much larger per-allele …
Opportunities and challenges for the use of common controls in sequencing studies
Genome-wide association studies using large-scale genome and exome sequencing data
have become increasingly valuable in identifying associations between genetic variants and …
have become increasingly valuable in identifying associations between genetic variants and …
Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer
To identify new susceptibility loci to lung cancer among diverse populations, we performed
cross-ancestry genome-wide association studies in European, East Asian and African …
cross-ancestry genome-wide association studies in European, East Asian and African …
FAVOR: functional annotation of variants online resource and annotator for variation across the human genome
Large biobank-scale whole genome sequencing (WGS) studies are rapidly identifying a
multitude of coding and non-coding variants. They provide an unprecedented resource for …
multitude of coding and non-coding variants. They provide an unprecedented resource for …
Multiple causal variants underlie genetic associations in humans
Associations between genetic variation and traits are often in noncoding regions with strong
linkage disequilibrium (LD), where a single causal variant is assumed to underlie the …
linkage disequilibrium (LD), where a single causal variant is assumed to underlie the …
SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests
Several biobanks, including UK Biobank (UKBB), are generating large-scale sequencing
data. An existing method, SAIGE-GENE, performs well when testing variants with minor …
data. An existing method, SAIGE-GENE, performs well when testing variants with minor …
Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies
Meta-analysis of whole genome sequencing/whole exome sequencing (WGS/WES) studies
provides an attractive solution to the problem of collecting large sample sizes for discovering …
provides an attractive solution to the problem of collecting large sample sizes for discovering …
A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies
Large-scale whole-genome sequencing studies have enabled analysis of noncoding rare-
variant (RV) associations with complex human diseases and traits. Variant-set analysis is a …
variant (RV) associations with complex human diseases and traits. Variant-set analysis is a …