Analyzing somatic mutations by single-cell whole-genome sequencing

L Zhang, M Lee, AY Maslov, C Montagna, J Vijg… - Nature …, 2024 - nature.com
Somatic mutations are the cause of cancer and have been implicated in other,
noncancerous diseases and aging. While clonally expanded mutations can be studied by …

The molecular pathology of schizophrenia: An overview of existing knowledge and new directions for future research

T Nakamura, A Takata - Molecular Psychiatry, 2023 - nature.com
Despite enormous efforts employing various approaches, the molecular pathology in the
schizophrenia brain remains elusive. On the other hand, the knowledge of the association …

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

C Chung, X Yang, T Bae, KI Vong, S Mittal, C Donkels… - Nature …, 2023 - nature.com
Malformations of cortical development (MCD) are neurological conditions involving focal
disruptions of cortical architecture and cellular organization that arise during …

Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions

EA Maury, MA Sherman, G Genovese, TG Gilgenast… - Cell genomics, 2023 - cell.com
While germline copy-number variants (CNVs) contribute to schizophrenia (SCZ) risk, the
contribution of somatic CNVs (sCNVs)—present in some but not all cells—remains …

Age-related somatic mutation burden in human tissues

P Ren, X Dong, J Vijg - Frontiers in Aging, 2022 - frontiersin.org
The genome of multicellular organisms carries the hereditary information necessary for the
development of all organs and tissues and to maintain function in adulthood. To ensure the …

Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes

EA Maury, A Jones, V Seplyarskiy, TTL Nguyen… - Science, 2024 - science.org
Germline mutations modulate the risk of develo** schizophrenia (SCZ). Much less is
known about the role of mosaic somatic mutations in the context of SCZ. Deep (239×) whole …

Somatic mutation as an explanation for epigenetic aging

Z Koch, A Li, DS Evans, S Cummings, T Ideker - Nature Aging, 2025 - nature.com
DNA methylation marks have recently been used to build models known as epigenetic
clocks, which predict calendar age. As methylation of cytosine promotes C-to-T mutations …

[HTML][HTML] The ticking of aging clocks

JDJ Han - Trends in Endocrinology & Metabolism, 2024 - cell.com
Computational models that measure biological age and aging rate regardless of
chronological age are called aging clocks. The underlying counting mechanisms of the …

The human brain through the lens of somatic mosaicism

S Bizzotto - Frontiers in Neuroscience, 2023 - frontiersin.org
Every cell in the human brain possesses a unique genome that is the product of the
accumulation of somatic mutations starting from the first postzygotic cell division and …

Somatic mutations and Alzheimer's disease

J Downey, JCK Lam, VOK Li… - Journal of Alzheimer's …, 2022 - content.iospress.com
Alzheimer's disease (AD) represents a global health challenge, with an estimated 55 million
people suffering from the non-curable disease across the world. While amyloid-plaques and …