Article

Identification of <i>de novo</i> variants from parent-proband duos via long-read sequencing

2025-02-26

Abstract excerpt

While de novo variants cause many Mendelian disorders, their detection currently requires sequencing of the proband and both biological parents. This is not feasible when only one parent is available, a limitation for millions of families. Here, we develop duoNovo , which identifies de novo variants from parent-proband duos using long-read sequencing followed by haplotype reconstruction and detection of identical-...

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Literature Corpus work: 13d46e63-4462-5ae7-9e3a-3d729ee247a7
DOI: 10.1101/2025.02.24.25322424

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