Noboru J. Sakabe

A pleiotropic EPAS1 enhancer mediating Tibetan adaptation to hypoxia is active in adipocytes

The paper investigates the role of the EPAS1 enhancer ENH5 in adipocytes, showing its conditional effects on thermogenesis and adipocyte differentiation under hypoxia and thermogenic stimulation.

Shared loci but distinct variants underlie genetic architecture of allergic diseases

The paper identifies disease-specific risk variants and shared effector genes in allergic diseases using functional fine-mapping and expression quantitative trait loci.

Integration of functional genomics and statistical fine-mapping systematically characterizes adult-onset and childhood-onset asthma genetic associations.

This study integrates functional genomics and statistical fine-mapping to identify causal variants, regulatory elements, and effector genes for adult-onset and childhood-onset asthma.

Transcriptome and regulatory maps of decidua-derived stromal cells inform gene discovery in preterm birth

The paper integrates GWAS data with functional genomic annotations of decidual stromal cells to identify loci and target genes associated with gestational duration and preterm birth.

Asthma-associated variants induce IL33 differential expression through a novel regulatory region

The paper identifies a regulatory region near the IL33 gene that influences asthma risk through allele-specific expression and OCT-1 binding.

A promoter interaction map for cardiovascular disease genetics

The paper generates promoter interaction maps in human iPSCs and cardiomyocytes to link CVD-associated SNPs to target genes, showing most SNPs interact with non-nearest genes.

Reducing mitochondrial reads in ATAC-seq using CRISPR/Cas9

The paper reduces mitochondrial reads in ATAC-seq using CRISPR/Cas9 and a modified protocol, improving peak calling and reducing costs.