Apuã C.M. Paquola

The paper analyzes repeat expression across the human lifespan in the neurotypical brain, identifying age-dependent upregulation of HERV-K in older adults.

dRFEtools implements dynamic recursive feature elimination to improve prediction accuracy and reduce computational time in omics data analysis.

The paper examines how genetic ancestry influences gene expression and DNA methylation in admixed African/Black Americans, showing environmental and genetic factors affect brain disease risk.

DeepMosaic detects mosaic single nucleotide variants without control samples using deep convolutional neural networks, achieving high accuracy and uncovering many variants missed by existing methods.

The paper identifies sex differences in schizophrenia across three brain regions using RNA-seq and genotypes, finding sex-specific genes, eQTLs, and transcriptional features.

This study characterizes TAF1 expression variation in XDP female carriers and human brain ontogeny, identifying age- and region-specific patterns that may explain neostriatum vulnerability in XDP.

The paper uses ventral forebrain organoids from schizophrenia patients and controls to show accelerated maturation of inhibitory neurons and shared gene expression patterns with postmortem brain tissue.

The paper evaluates brain somatic mosaicism in the adult human to identify rules governing cellular distribution during embryogenesis.

The paper introduces a machine learning method to detect somatic L1 insertions in human brain tissue, revealing their widespread distribution in neurons and glia and potential role in neuropsychiatric diseases.

This paper shows that primed human pluripotent stem cells can differentiate to trophoblast stem cells without becoming naive, using specific signaling conditions and revealing a transcriptional network involving BMP5/7 and GATA3.