Alzheimer’s disease (AD) is an age-associated neurodegenerative disorder characterized by progressive neuronal loss and pathological accumulation of the misfolded proteins amyloid-β and tau[1][1],[2][...

Himito is a graph-based toolkit for long-read mitochondrial genome analysis. It integrates NUMT filtering, haplotype assembly, variant calling, and methylation profiling, providing a comprehensiv...

Grońska-Pęski et al. developed an approach to profile somatic mutations at high fidelity in two major cerebellar neuron types with markedly different physiologies: Purkinje and granule neurons. Profil...

Optimized Mung Bean Nuclease Nanoseq Library Preparation Protocol for Whole Genome Sequencing. Duplex. Read full protocol, steps, and materials on protocols.io

Highlights Somatic mutations record tissue molecular history and inform risk, prognosis, and therapy, yet their variant allele fractions often fall below the reliable detection limit of conventional...

The Somatic Mosaicism across Human Tissues (SMaHT) Network aims to transform our understanding of how somatic mosaicism in human cells influences biology and disease.

Podcast Episode · The Early Perspective · August 10 · 58m

Postzygotic mosaicism gives rise to somatic structural variants (SVs) at ultra-low variant allele fractions (VAFs), which pose challenges for detection due to the high-coverage sequencing required and...

CompDuplex: Accurate detection of somatic mutations by duplex-seq with comprehensive genome coverage. . Read full protocol, steps, and materials on protocols.io

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Single-cell DNA sequencing offers a powerful means of studying somatic mosaicism but requires careful analysis to mitigate DNA amplification-related artifacts. We performed primary template-directed a...

A new technology allows scientists to map, in single cells, the DNA binding sites of transcription factors and other regulatory proteins that control gene activity, according to a study led by investi...

YouTube video by Sano Genetics

Somatic mutations are inevitable in human genomes and can lead to tumorigenesis, yet baseline mutagenesis in non-cancerous normal cells remain poorly understood. Here, we analyzed the mutation profile...

D&D-seq, a single-cell immune-tethering strategy, captures weak and transient DNA-protein interactions to enable integrated, genome-wide analysis of transcription factor binding across chromatin state...

YouTube video by SMaHT Network

High-resolution analyses of blood-derived whole-genome sequence data from UK Biobank detect new mosaic chromosomal alterations and identify rare protein-coding variants associated with clonal expansio...

Somatic mutations are inevitable in human genomes and can lead to tumorigenesis, yet baseline mutagenesis in non-cancerous normal cells remain poorly understood. Here, we analyzed the mutation profile...

Learn how sporadic cases of ALS/FTD may be influenced by somatic mutations, according to new research findings.

YouTube video by SMaHT Network

Same drivers of disease within microglia indicate that certain cancer treatments may be effective for Alzheimer’sBOSTON, MA [April 21, 2026] — As the body ages

The 2026 HCA General Meeting will take place in person in Boston, USA and virtually. Topics will include creating a cross-tissue 3D reference Atlas with spatial resolution that is geographically and g...

YouTube video by SMaHT Network

Accurately resolving the full spectrum of somatic alterations remains a major barrier in cancer genomics. Current short-read sequencing methods often prioritize SNVs and copy-number changes while over...

YouTube video by SMaHT Network

YouTube video by SMaHT Network

YouTube video by SMaHT Network