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Article

Strategies for mosaic variant calling in brain disorders.

Current opinion in genetics & development - 1 Oct 2026

Kang Seungseok, Oh Yujin, Kim Sangwoo

Abstract excerpt

The human brain is a genomic mosaic, where postzygotic mutations arising from embryogenesis to senescence drive diverse neurodevelopmental and neurodegenerative diseases. Because of numerous sequencing artifacts at ultralow variant allele frequencies (VAFs), detecting these variants remains a significant analytical challenge. This review focuses on single-nucleotide variants and small indels, summarizing current...

Read the complete abstract on PubMed

Topics

Humans
Mosaicism
Brain Diseases
Polymorphism, Single Nucleotide
Brain
Algorithms
Gene Frequency

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

INDEL Mutation

High-Throughput Nucleotide Sequencing

Source

Identifiers

PMID: 42531746
DOI: 10.1016/j.gde.2026.102518

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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