You‐Qiang Song

Exploring Genetic Interactions with Rare Variants Reveals Gene Networks Susceptible to Complex Diseases

GGI-RUNNER identifies rare variant gene interactions linked to complex diseases and reveals interconnected gene networks.

Cerebrospinal Fluid Dynamics: Uncovering Alternative Blood Vessel Clearance Mechanisms

This study identifies a previously unrecognized CSF drainage pathway through blood vessels in the nasal mucosa, showing that CSF tracers can be drained via both lymphatic and venous routes in mice.

Differentiation and migration of hematopoietic stem and progenitor cells cross multiple tissues

The paper integrates single-cell RNA-seq data from multiple tissues to construct a cell atlas of hematopoietic stem and progenitor cells (HSPCs) and identifies migration patterns and signaling interactions involved in their cross-tissue differentiation.

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis

This study identifies a genetic variant in COL11A1 associated with adolescent idiopathic scoliosis and proposes a molecular model involving Pax1, Col11a1, and Mmp3 in spinal chondrocytes.

Deviation from baseline mutation burden provides powerful and robust rare-variants association test for complex diseases

This paper introduces a new statistical method, RUNNER, to detect rare variants associated with complex diseases by comparing observed mutation burdens to predicted baseline values, showing improved power over existing methods.

Trans-ethnic polygenic analysis supports genetic overlaps of lumbar disc degeneration with height, body mass index, and bone mineral density

The paper uses polygenic scores to show genetic overlaps between lumbar disc degeneration and height, BMI, and BMD in Chinese and Japanese cohorts.