Michael A. Lodato

This study shows that ATM deficiency causes microglial activation, which contributes to neurodegeneration in Ataxia-Telangiectasia by inducing cytotoxicity in neurons.

The paper identifies transcriptomic and genomic changes in the aging human brain using single-nucleus RNA-sequencing and single-cell whole-genome sequencing, revealing age-related gene expression patterns and somatic mutation dynamics.

The paper uses somatic mutations to analyze lineage divergence in human cortical regions, finding late divergence of neuronal cell types and regional inhomogeneities in progenitor proliferation.

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

The paper introduces PTA for single-cell DNA sequencing and SCAN2 to detect somatic SNVs and indels in single neurons, finding age-related increases in both with indels having greater functional impact.

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.

The paper reanalyzes data from a study claiming somatic APP gene copy number gains in AD neurons, finding evidence of contamination by recombinant vectors instead of true somatic retrotransposition.

The paper introduces LiRA, a method to distinguish true mutations from artifacts in single-cell DNA sequencing data by phasing somatic variants with germline variants.

The paper identifies age-related accumulation of somatic mutations in human neurons and links them to neurodegenerative diseases.

PaSD-qc evaluates scWGS library quality using power spectral density to assess amplification uniformity and identify aberrant chromosomes.