Xiaoxi Liu

Imputation Disparities Driven by Recent Selectionand Their Impact on Disease Risk Estimation in East and Southeast Asian Populations

The paper evaluates imputation performance in East and Southeast Asian populations, showing that recent selection affects variant detection and polygenic risk score estimation.

Sequence sensitivity of open chromatin reveals constrained regulatory elements underlying human traits

The paper introduces CAMBUS, a machine-learning framework to identify functionally important open chromatin regions by measuring sequence sensitivity, and finds these regions are enriched for evolutionary constraint and disease-related variants.

Genetic insights into ossification of the posterior longitudinal ligament of the spine

This study identifies genetic loci and causal traits associated with ossification of the posterior longitudinal ligament of the spine using GWAS and Mendelian randomization analyses.

Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection

This study identifies genetic drivers and cellular selection signatures of mosaic X chromosome loss in women using large-scale population data and polygenic scores.

Autism in a dish: ES cell models of autism with copy number variations reveal cell-type-specific vulnerability

The paper establishes genetically modified mouse embryonic stem cell lines for autism spectrum disorder research and uses single-cell RNA sequencing to identify cell-type and CNV-specific molecular features.

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

The paper investigates the association between age-related mosaic chromosomal alterations and infection risk in 767,891 individuals without blood cancer, finding increased infection susceptibility linked to mCAs.

Endogenization and excision of human herpesvirus 6 in human genomes

The paper analyzes HHV-6 integration in human genomes, identifies co-evolution with chr22q, and reports evidence of in vivo excision and reactivation.

Population-wide Screening for Germline Variants of Hereditary Cancer Genes in 12K Unselected Japanese Colorectal Cancers and 27K Controls

The paper screens 12,503 Japanese CRC patients and 23,705 controls for germline variants in 27 cancer genes, finding 3.3% of patients have pathogenic variants linked to CRC risk.