Microhomology-mediated tandem duplication is a conserved mechanism of genomic variation with relevance to human disease.

Microhomology-mediated tandem duplication (MMTD) — conserved mechanism generating highly mutable tandem repeats with implications for human genomic variation

Microhomology-mediated tandem duplication (MMTD) is characterized as a conserved mechanism generating highly mutable tandem repeats with significant functional consequences. This mechanistic characterization directly informs our understanding of how pathogenic tandem duplications arise in human genomic disease, with implications for SV calling and interpretation in clinical genomics.

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Characterizing SV formation mechanisms is directly useful in clinical genomics: understanding how and where tandem duplications preferentially arise enables improved SV callers and more accurate de novo CNV interpretation. This work contributes to the mechanistic basis of structural variant detection bioinformatics tools.

Clinical impact : 2/3 · Evidence strength : 2/3 · Novelty : 2/2 · Sample size : 1/1 · Journal quality : 1/1 → Total : 8/10