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A personalized multi-platform assessment of somatic mosaicism in the human frontal cortex

2024-12-21

Abstract excerpt

Somatic mutations in individual cells create genomic mosaicism, influencing genetic disorders and cancers. While clonal mutations in cancers are well-studied, rarer somatic variants in normal tissues remain poorly characterized. This study systematically evaluates detection methods using a personalized donor-specific assembly (DSA) from a neurotypical individual’s dorsolateral prefrontal cortex assessed with Oxfor...

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Literature Corpus work
5e202091-2233-54f6-9a01-779183c8ec3c
DOI
10.1101/2024.12.18.629274
Open publication

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A personalized multi-platform assessment of somatic mosaicism in the human frontal cortexDOI 10.1101/2024.12.18.629274
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