Sumei Lu

Variant-to-function mapping of late-onset Alzheimer's disease GWAS signals in human microglial cell models implicates RTFDC1 at the CASS4 locus

The paper maps GWAS variants associated with late-onset Alzheimer's disease to functional effects in microglial cells, identifying RTFDC1 as a novel effector gene at the CASS4 locus.

Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3' UTR of FAIM2

The paper identifies rs7132908 as a causal variant in the chr12q13 obesity locus, showing it affects FAIM2 expression and neurodevelopment through cis-regulatory mechanisms.

Projecting genetic associations through gene expression patterns highlights disease etiology and drug mechanisms

This paper introduces PhenoPLIER, a method that maps gene-trait and drug associations into gene modules to reveal disease mechanisms and drug targets.

Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant common complex traits

The paper maps cis-regulatory elements in human ESC-derived hypothalamic neurons and links them to GWAS loci for complex traits, identifying candidate genes and regulatory elements involved in hypothalamic development.

Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual through variant-to-gene mapping

The paper identifies 40 novel genetic loci associated with longitudinal pediatric bone accrual and identifies candidate effector genes through variant-to-gene mapping and functional validation.

Human follicular helper T cell promoter connectomes reveal novel genes and regulatory elements at SLE GWAS loci

This paper identifies functional variants and regulatory elements at SLE GWAS loci using 3D chromatin maps of TFH cells, revealing novel genes and regulatory interactions.

Genome-scale Capture C promoter interaction analysis implicates novel effector genes at GWAS loci for bone mineral density

The paper uses SPATIaL-seq and ATAC-seq to identify novel effector genes at GWAS loci for bone mineral density by mapping variant-promoter interactions in osteoblasts.