August Yue Huang

The paper identifies a shared TOP1-mediated mutagenic mechanism in ALS, FTD, and AD through single-cell genomic analysis and experimental validation.

The paper analyzes somatic mutations in cerebellar granule neurons and finds distinct mutation patterns compared to other neuronal types, suggesting links to cancer origins and neurodegeneration.

This study identifies somatic Ras-MAPK pathway variants in hippocampal tissue from patients with drug-resistant epilepsy, showing their association with clonal competition and worse surgical outcomes.

The paper identifies somatic genomic alterations in neurons from CTE patients, finding patterns similar to Alzheimer's disease and suggesting mechanisms beyond repetitive head impacts.

This study uses snRNA-seq and a new method called GO-TEN to analyze mosaic genetic variants in focal cortical dysplasia, revealing cell-autonomous and non-cell-autonomous transcriptional changes associated with epilepsy.

The paper introduces Duplex-Multiome, a method to identify cell-type-specific somatic mutations in brain tissue, revealing age-related mutation patterns and developmental lineage relationships.

The paper examines somatic mutations in neurons across tau pathologic states in Alzheimer's disease and finds increased mutation burden and specific mutational signatures in AD neurons.

This study finds that Alzheimer's disease patients have more clonal hematopoiesis mutations than controls, especially those with APOE ε3/ε3 genotype, suggesting a risk factor independent of APOE ε4.

This study investigates whether somatic mutations in PRNP contribute to sporadic Creutzfeldt-Jakob Disease (sCJD) by sequencing PRNP in 205 sCJD cases and 170 controls, finding no evidence of pathogenic somatic variants.

The paper identifies somatic driver mutations in microglia of Alzheimer's disease brains, showing increased clonal expansion and inflammatory signatures.

The paper identifies rare somatic mutations in sporadic ALS and FTD cases, suggesting they contribute to disease and widespread neurodegeneration.

The paper uses somatic mutations to analyze lineage divergence in human cortical regions, finding late divergence of neuronal cell types and regional inhomogeneities in progenitor proliferation.

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

DeepMosaic detects mosaic single nucleotide variants without control samples using deep convolutional neural networks, achieving high accuracy and uncovering many variants missed by existing methods.

The paper evaluates brain somatic mosaicism in the adult human to identify rules governing cellular distribution during embryogenesis.

PRDD-seq simultaneously reconstructs cell type, lineage, and birthdate in human brain tissue by analyzing RNA and DNA mutations in single cells.

MosaicBase is a database of postzygotic mosaic variants in noncancer diseases and asymptomatic individuals, revealing distinct genomic features of disease-causing variants.

The paper reanalyzes data from a study claiming somatic APP gene copy number gains in AD neurons, finding evidence of contamination by recombinant vectors instead of true somatic retrotransposition.

The paper profiles somatic L1Hs insertions in Rett patients and healthy controls, finding increased insertions in the brain and altered genomic patterns linked to MECP2 dysfunction.

The paper identifies and characterizes two types of postzygotic single-nucleotide mosaicisms in healthy individuals using whole-genome sequencing across multiple organs.