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Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain

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Accuracy of Answers to Cell Lineage Questions Depends on Single-Cell Genomics Data Quality and Quantity

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Identification of somatic mutations in postmortem human brains by whole genome sequencing and their implications for psychiatric disorders

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PRISM: A Progenitor-Restricted Intersectional Fate Mapping Approach Redefines Forebrain Lineages

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Simultaneous brain cell type and lineage determined by scRNA-seq reveals stereotyped cortical development

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The molecular map of CLL and Richter's syndrome

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Neuronal somatic mutations are increased in multiple sclerosis lesions

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Postzygotic Somatic Mutations in the Human Brain Expand the Threshold-Liability Model of Schizophrenia

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Introduction to Autism Spectrum Disorders

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From the genome's perspective: Bearing somatic retrotransposition to leverage the regulatory potential of L1 RNAs

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Single-cell analysis of diversity in human stem cell-derived neurons

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Suppression of DNA Double-Strand Break Formation by DNA Polymerase β in Active DNA Demethylation Is Required for Development of Hippocampal Pyramidal Neurons

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The trickiest family tree in biology

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Neuronal enhancers get a break

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Recent advances in lineage tracing for the kidney

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Technological and computational approaches to detect somatic mosaicism in epilepsy

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HIPSD&R-seq enables scalable genomic copy number and transcriptome profiling

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Assessment of the gene mosaicism burden in blood and its implications for immune disorders

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High-quality nuclei isolation from postmortem human heart muscle tissues for single-cell studies

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FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations

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Modeling Somatic Mutations Associated With Neurodevelopmental Disorders in Human Brain Organoids

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Contrasting patterns of somatic mutations in neurons and glia reveal differential predisposition to disease in the aging human brainPreprint

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Single‐cell mitochondrial lineage tracing: Opportunities and challenges

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Common Postzygotic Mutational Signatures in Healthy Adult Tissues Related to Embryonic Hypoxia

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Grave-to-cradle: human embryonic lineage tracing from the postmortem body

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Cheminformatics and Bioinformatics at the Interface with Systems Biology

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Somatic Variants in the Human Lens Epithelium: A Preliminary Assessment

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Validation of Suspected Somatic Single Nucleotide Variations in the Brain of Alzheimer’s Disease Patients

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Growth conditions that increase or decrease lifespan in Saccharomyces cerevisiae lead to corresponding decreases or increases in rates of interstitial deletions and non-reciprocal translocations

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Decoding and recoding plant development

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The Space-Time Continuum of Cortical Dysplasia

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Single-cell analysis of the somatic mutational landscape in human chondrocytes during aging and in osteoarthritis

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Evolving strategies for lineage tracing: Genetic markers, synthetic barcodes, and natural variants

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Genomic Mosaicism of the Brain: Origin, Impact, and Utility

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Stochastic clonal expansion of “superstars” enhances the reserve capacity of enteric nervous system precursor cells

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Spontaneous deamination of cytosine to uracil is biased to the non-transcribed DNA strand in yeast

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Single-Cell CNV Detection in Human Neuronal Nuclei

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Identification of Disease Susceptibility Alleles in the Next Generation Sequencing Era

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Concomitant selenoenzyme inhibitor exposures as etiologic contributors to disease: Implications for preventative medicine

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Four-dimensional, dynamic mosaicism is a hallmark of normal human skin that permits mapping of the organization and patterning of human epidermis during terminal differentiation

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Natural and pathogenic protein sequence variation affecting prion-like domains within and across human proteomes

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CRISPR/Cas9 Editing: Sparking Discussion on Safety in Light of the Need for New Therapeutics

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Improved Mutation Detection in Duplex Sequencing Data with Sample-Specific Error ProfilesPreprint

Cheng, Y., Nandi, S. P., Culibrk, L., Kristin, A., Stuewe, I., Al-Azzam, S., Petljak, M., & Alexandrov, L. B. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.07.13.664565 · Cited by 7

A comprehensive view of somatic mosaicism by single-cell DNA analysisPreprint

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Somatic mosaicism in ALS and FTD identifies focal mutations associated with widespread degeneration

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Somatic mutations reveal the ontogeny of microglia in human ageing

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Bioinformatic and biological avenues for understanding alcohol use disorder

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Sequencing the Human Brain at Single-Cell Resolution

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Human brain harbors single nucleotide somatic variations in functionally relevant genes possibly mediated by oxidative stress

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SureTypeSC—a Random Forest and Gaussian mixture predictor of high confidence genotypes in single-cell data

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Alzheimer's disease: the large gene instability hypothesisPreprint

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Mitochondrial clone tracing within spatially intact human tissuesPreprint

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Single-cell mosaicism analysis reveals cell-type-specific somatic mutational burden in Alzheimer’s Dementia

Kousi, M., Boix, C., Park, Y. P., Mathys, H., Sledzieski, S., Peng, Z., Bennett, D. A., Tsai, L.-H., & Kellis, M. (2022) · doi:10.1101/2022.04.21.489103 · Cited by 7

Brain somatic mutations in Alzheimer’s disease: linking genetic mosaicism to neurodegeneration

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Direct and indirect neurogenesis from radial glial progenitor cell clones in the mouse neocortex

Shen, D., Wang, X., Liu, R.-H., Deng, H., Tong, S., Chen, J.-Y., Zhai, Z.-Y., Li, Y.-X., Lin, Y., Yang, F., et al. (2025) · The EMBO Journal · doi:10.1038/s44318-025-00624-9 · Cited by 4

Computational approaches for multimodal lineage tracing

Wang, K., He, X., & Hu, Z. (2026) · Nature Reviews Genetics · doi:10.1038/s41576-026-00969-9 · Cited by 7

What makes each of us unique? The nine-banded armadillo as a model to study individuality

Leão, D. P., Duque, A., & Dietrich, M. O. (2024) · Frontiers in Mammal Science · doi:10.3389/fmamm.2024.1450655 · Cited by 4

Sensitivity to copy number variation analysis in single cell genomics

Tu, J., Zhou, Y., Tao, Y., Lü, N., Yang, Y., & Lu, Z. (2021) · Gene · doi:10.1016/j.gene.2021.145995 · Cited by 4

Genomic variation in neurons

Zolzaya, S., Narumoto, A., & Katsuyama, Y. (2023) · Development Growth & Differentiation · doi:10.1111/dgd.12898 · Cited by 4

Adaptive and Maladaptive DNA Breaks in Neuronal Physiology and Alzheimer’s Disease

Roberts, A., Swerdlow, R. H., & Wang, N. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25147774 · Cited by 4

Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease

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Identification of Low Allele Frequency Mosaic Mutations in Alzheimer Disease

Frigerio, C. S., Fiers, M. W. E. J., Voet, T., & Strooper, B. D. (2017) · Neuromethods · doi:10.1007/978-1-4939-7280-7_17 · Cited by 4

Haplotype resolution at the single-cell level

Adey, A. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1717798114 · Cited by 4

Exploration of cell type–specific somatic mutations in schizophrenia and the impact of maternal immune activation on the somatic mutation profile in the brain

Du, J., Nakachi, Y., Murata, Y., Kiyota, E., Kato, T., Bundo, M., & Iwamoto, K. (2024) · Psychiatry and Clinical Neurosciences · doi:10.1111/pcn.13640 · Cited by 4

Somatic Mutations in Single Neurons

Lee, S. (2017) · Scholarworks@UNIST (Ulsan National Institute of Science and Technology)

Science AMA Series: We are Mollie Woodworth and Michael Lodato (Harvard). We sequenced single neurons from normal human brain and found ~1700 mutations per neuron. We’re here to talk about these “somatPreprint

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Individualized neuronal mutations in the human brain

Hines, P. J. (2015) · Science · doi:10.1126/science.350.6256.52-l

Cell lineage analysis in human brain using endogenous retroelements

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Probing genomic diversity in neurons

Yates, D. M. (2012) · Nature reviews. Neuroscience · doi:10.1038/nrn3402