Brain Somatic Mosaicism Network

Mapping the Complex Genetic Landscape of Human Neurons

The paper identifies and validates copy number variants in single human neurons using a new method, revealing nonrandom CNV locations and complex karyotypes in a subset of neurons.

Comprehensive multiomic profiling of somatic mutations in malformations of cortical development

This study identifies 69 mutated genes in malformations of cortical development using multiomic profiling of 317 brain resections and single-cell sequencing.

Enrichment of somatic mutations in schizophrenia brain targets prenatally active transcription factor bindings sites

The paper identifies prenatal mutational processes in schizophrenia brains linked to transcription factor binding sites and proposes a new term 'skiagenesis' for these mutations.

Comprehensive identification of somatic nucleotide variants in human brain tissue

This study identifies somatic SNVs in non-cancerous human brain tissues and establishes best practices for detecting low-frequency variants.

Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia

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 Landscape of Mutational Mosaicism in Autistic and Normal Human Cerebral Cortex

The paper analyzes somatic mutations in autistic and control brains, finding higher mutation rates in ASD brains, particularly in enhancer regions.