Shixiang Sun

SomaMutDB 2.0 is a database that catalogs 8.9 million somatic mutations from 10,852 samples and provides functional annotations to assess their impact in normal human tissues.

This study analyzes somatic mutations in chondrocytes from aging and osteoarthritis patients using single-cell whole genome sequencing, finding age-related mutation accumulation with a lower rate in OA chondrocytes.

The paper identifies a high spontaneous mutational load in PBMCs of XP-C patients, linked to specific mutation signatures and replication-dependent mutagenesis.

The paper examines aneuploidy in non-neuronal brain nuclei of GBM patients and finds it is common in normal tissue and not associated with GBM risk.

The paper analyzes RNA-seq data from Parkinson's Disease patients and controls to find increased somatic mutations in PD, with some clonal mutations being protective.

This paper introduces SMM-SV-seq, a method to detect rare somatic structural-variant breakpoints in bulk DNA with high precision and recall, validated using human and Drosophila DNA mixtures and clinical treatments.

The paper shows that human fibroblasts undergo negative selection against harmful mutations, maintaining growth despite high mutation loads.

The paper examines the association between clonal hematopoiesis and Parkinson's disease using whole exome sequencing data from controls and patients.

This study investigates the role of retrotransposon expression and insertions in aging using Drosophila, finding that expression, not insertion, is linked to longevity.

The paper shows that somatic mutation frequencies increase with age in human liver hepatocytes but are lower in liver stem cells and organoids.