[HTML][HTML] Resolving rates of mutation in the brain using single-neuron genomics

GD Evrony, E Lee, PJ Park, CA Walsh - Elife, 2016 - elifesciences.org
Whether somatic mutations contribute functional diversity to brain cells is a long-standing
question. Single-neuron genomics enables direct measurement of somatic mutation rates in …

[HTML][HTML] Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain

GD Evrony, X Cai, E Lee, LB Hills, PC Elhosary… - Cell, 2012 - cell.com
A major unanswered question in neuroscience is whether there exists genomic variability
between individual neurons of the brain, contributing to functional diversity or to an …

[HTML][HTML] Cell lineage analysis in human brain using endogenous retroelements

GD Evrony, E Lee, BK Mehta, Y Benjamini… - Neuron, 2015 - cell.com
Somatic mutations occur during brain development and are increasingly implicated as a
cause of neurogenetic disease. However, the patterns in which somatic mutations distribute …

L1-associated genomic regions are deleted in somatic cells of the healthy human brain

JA Erwin, ACM Paquola, T Singer, I Gallina… - Nature …, 2016 - nature.com
The healthy human brain is a mosaic of varied genomes. Long interspersed element-1
(LINE-1 or L1) retrotransposition is known to create mosaicism by inserting L1 sequences …

Somatic mutation in single human neurons tracks developmental and transcriptional history

MA Lodato, MB Woodworth, S Lee, GD Evrony… - Science, 2015 - science.org
Neurons live for decades in a postmitotic state, their genomes susceptible to DNA damage.
Here we survey the landscape of somatic single-nucleotide variants (SNVs) in the human …

[HTML][HTML] The complete genome sequences, unique mutational spectra, and developmental potency of adult neurons revealed by cloning

JL Hazen, GG Faust, AR Rodriguez, WC Ferguson… - Neuron, 2016 - cell.com
Somatic mutation in neurons is linked to neurologic disease and implicated in cell-type
diversification. However, the origin, extent, and patterns of genomic mutation in neurons …

[HTML][HTML] Recombination of repeat elements generates somatic complexity in human genomes

G Pascarella, CC Hon, K Hashimoto, A Busch… - Cell, 2022 - cell.com
Non-allelic recombination between homologous repetitive elements contributes to evolution
and human genetic disorders. Here, we combine short-and long-DNA read sequencing of …

Submegabase copy number variations arise during cerebral cortical neurogenesis as revealed by single-cell whole-genome sequencing

S Rohrback, C April, F Kaper… - Proceedings of the …, 2018 - National Acad Sciences
Somatic copy number variations (CNVs) exist in the brain, but their genesis, prevalence,
forms, and biological impact remain unclear, even within experimentally tractable animal …

Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements

LJ Luquette, MB Miller, Z Zhou, CL Bohrson, Y Zhao… - Nature …, 2022 - nature.com
Accurate somatic mutation detection from single-cell DNA sequencing is challenging due to
amplification-related artifacts. To reduce this artifact burden, an improved amplification …

[HTML][HTML] Comprehensive identification of somatic nucleotide variants in human brain tissue

Y Wang, T Bae, J Thorpe, MA Sherman, AG Jones… - Genome biology, 2021 - Springer
Background Post-zygotic mutations incurred during DNA replication, DNA repair, and other
cellular processes lead to somatic mosaicism. Somatic mosaicism is an established cause of …