Extensive phylogenies of human development inferred from somatic mutations
Starting from the zygote, all cells in the human body continuously acquire mutations.
Mutations shared between different cells imply a common progenitor and are thus naturally …
Mutations shared between different cells imply a common progenitor and are thus naturally …
Lineage tracing of human development through somatic mutations
M Spencer Chapman, AM Ranzoni, B Myers… - Nature, 2021 - nature.com
The ontogeny of the human haematopoietic system during fetal development has previously
been characterized mainly through careful microscopic observations. Here we reconstruct a …
been characterized mainly through careful microscopic observations. Here we reconstruct a …
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
We characterize the landscape of somatic mutations—mutations occurring after fertilization—
in the human brain using ultra-deep (~ 250×) whole-genome sequencing of prefrontal cortex …
in the human brain using ultra-deep (~ 250×) whole-genome sequencing of prefrontal cortex …
Human embryonic genetic mosaicism and its effects on development and disease
SM Waldvogel, JE Posey, MA Goodell - Nature Reviews Genetics, 2024 - nature.com
Nearly every mammalian cell division is accompanied by a mutational event that becomes
fixed in a daughter cell. When carried forward to additional cell progeny, a clone of variant …
fixed in a daughter cell. When carried forward to additional cell progeny, a clone of variant …
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 …
accumulation of somatic mutations starting from the first postzygotic cell division and …
Somatic mosaicism reveals clonal distributions of neocortical development
The structure of the human neocortex underlies species-specific traits and reflects intricate
developmental programs. Here we sought to reconstruct processes that occur during early …
developmental programs. Here we sought to reconstruct processes that occur during early …
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
M Bernkopf, UB Abdullah, SJ Bush, KA Wood… - Nature …, 2023 - nature.com
Following the diagnosis of a paediatric disorder caused by an apparently de novo mutation,
a recurrence risk of 1–2% is frequently quoted due to the possibility of parental germline …
a recurrence risk of 1–2% is frequently quoted due to the possibility of parental germline …
Developmental and temporal characteristics of clonal sperm mosaicism
Throughout development and aging, human cells accumulate mutations resulting in
genomic mosaicism and genetic diversity at the cellular level. Mosaic mutations present in …
genomic mosaicism and genetic diversity at the cellular level. Mosaic mutations present in …
Accurate detection of mosaic variants in sequencing data without matched controls
Detection of mosaic mutations that arise in normal development is challenging, as such
mutations are typically present in only a minute fraction of cells and there is no clear …
mutations are typically present in only a minute fraction of cells and there is no clear …
Post-zygotic brain mosaicism as a result of partial reversion of pre-zygotic aneuploidy
Post-zygotic brain mosaicism as a result of partial reversion of pre-zygotic aneuploidy | Nature
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