Area of research
Molecular Biology · Genetics
Research interest
Research interests include Biology, Genetics, Epigenetics, Quantitative trait locus, DNA methylation, and Genome-wide association study.
Structural polymorphism and diversity of human segmental duplications
Structural variation, selection, and diversification of the NPIP gene family from the human pangenome
Intronic <i>FGF14</i> GAA repeat expansions impact progression and survival in multiple system atrophy
Characterization and visualization of tandem repeats at genome scale
DNA mismatch and damage patterns revealed by single-molecule sequencing
Epigenetic variation impacts individual differences in the transcriptional response to influenza infection
Pangenome graphs improve the analysis of structural variants in rare genetic diseases
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly
Addressing dispersion in mis‐measured multivariate binomial outcomes: A novel statistical approach for detecting differentially methylated regions in bisulfite sequencing data
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort
Transposable elements are associated with the variable response to influenza infection
Genome graphs detect human polymorphisms in active epigenomic state during influenza infection
Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases
Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease
Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for twelve immune-mediated diseases
H3K27M induces defective chromatin spread of PRC2-mediated repressive H3K27me2/me3 and is essential for glioma tumorigenesis
Introducing the Endotype Concept to Address the Challenge of Disease Heterogeneity in Type 1 Diabetes
Variation in PU.1 binding and chromatin looping at neutrophil enhancers influences autoimmune disease susceptibility
Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer
Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma
Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells
Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3
An epigenome-wide association study of total serum immunoglobulin E concentration
Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants
Population whole-genome bisulfite sequencing across two tissues highlights the environment as the principal source of human methylome variation