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Article

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

Nature genetics - 1 Oct 2022

Luquette Lovelace J, Miller Michael B, Zhou Zinan, Bohrson Craig L, Zhao Yifan, Jin Hu, Gulhan Doga, Ganz Javier, Bizzotto Sara, Kirkham Samantha, Hochepied Tino, Libert Claude, Galor Alon, Kim Junho, Lodato Michael A, Garaycoechea Juan I, Gawad Charles, West Jay, Walsh Christopher A, Park Peter J

Abstract excerpt

Accurate somatic mutation detection from single-cell DNA sequencing is challenging due to amplification-related artifacts. To reduce this artifact burden, an improved amplification technique, primary template-directed amplification (PTA), was recently introduced. We analyzed whole-genome sequencing data from 52 PTA-amplified single neurons using SCAN2, a new genotyper we developed to leverage mutation signatures...

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Share to Genome, Human
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to INDEL Mutation

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Share to Polymorphism, Single Nucleotide

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Source

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Identifiers

PMID: 36163278
DOI: 10.1038/s41588-022-01180-2
PMCID: PMC9833626

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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