Junehawk Lee

Clonal dynamics of monozygotic twinning in early human embryogenesis

The paper uses post-zygotic mutations to analyze clonal dynamics in monozygotic twins and finds three clonal categories correlated with amnionicity, not chorionicity.

Updated binding model for a splicing factor, PTBP1 (Polypyrimidine Tract Binding Protein1)

The paper updates a PTBP1 binding model using TFFMs, improving predictive performance and correlation with experimental data.

Thermodynamic Parameter Estimation for Modified Oligonucleotides Using Molecular Dynamics Simulations

This study estimates thermodynamic parameters for RNA/DNA hybrid duplexes using MD simulations, finding MMGBSA provides more accurate predictions than MMPBSA for modified oligonucleotides.

Extensive mosaicism by somatic L1 retrotransposition in normal human cells

The paper analyzes somatic L1 retrotranspositions in single-cell genomes from normal human tissues, finding high prevalence in colorectal cells and revealing epigenetic mechanisms driving retrotransposition.

Ultra-fast Prediction of Somatic Structural Variations by Reduced Read Mapping via Pan-Genome k-mer Sets

ETCHING is an ultra-fast somatic structural variation caller that reduces mapping costs and false positives using pan-genome k-mer sets and a Random Forest classifier.

Clonal dynamics in early human embryogenesis inferred from somatic mutation

This study uses somatic mutations to reconstruct cellular phylogenetic trees and analyze clonal dynamics in early human embryogenesis.

Multi-organ analysis of low-level somatic mosaicism reveals stage- and tissue-specific mutational features in human development

The paper analyzes low-level somatic mutations across multiple organs and developmental stages, finding stage- and tissue-specific mutational features.

Noncoding de novo mutations contribute to autism spectrum disorder via chromatin interactions

The paper identifies noncoding de novo mutations contributing to autism spectrum disorder by altering chromatin interactions and gene expression in neural stem cells.