Kaiyue Ma

The paper identifies hidden open reading frames in plasmids using eGFP as a model, finding 6% of constructs contain hidden ORFs, mostly in the +2 frame.

The paper presents a high-accuracy T2T rhesus macaque genome assembly, identifies subtelomeric repeats as a challenge, and reveals new genomic features and functional elements in these regions.

The paper systematically evaluates SGCA variant effects using saturation mutagenesis to distinguish functional and non-functional variants, revealing domain-specific constraints in sarcoglycanopathies.

The paper develops a method to detect and analyze NUMTs in human and non-human primate genomes, revealing their genomic features, population dynamics, and evolutionary implications.

The paper identifies a human-specific genomic structure formed by a joint segmental duplication that drives transcriptional readthrough and expression fine-tuning of NPEPPS-TBC1D3.

The paper identifies three ancient segmental duplications at the human chromosome 2 fusion site, showing their differential distribution due to incomplete lineage sorting and their regulatory impact on gene expression.

This study presents genome assemblies and analyses of macaques to explore genetic variation, population history, and evolutionary differences between species and humans.

The paper develops a mitochondrial constraint model applied to gnomAD data, revealing strong depletion of expected variation and identifying constrained regions in mtDNA.

This paper introduces SMuRF, a framework for deep mutational scanning in disease-related genes, generating functional scores for all coding variants and aiding in variant interpretation.

The paper investigates chromatin architecture changes during human cardiomyocyte differentiation and identifies HERV-H retrotransposons as key regulators of TAD boundaries and gene regulation.