Article
Identification of de novo variants from parent-proband duos via long-read sequencing.
American journal of human genetics - 5 Mar 2026
Boukas Leandros, Délot Emmanuèle C, Pitsava Georgia, Lambert Christine, Fanslow Cairbre, Baybayan Primo, Belhadj Sami, Losic Bojan, Harting John, Bluske Krista, LoTempio Jonathan, Al-Kouatly Huda B, Karam Rachid, Rowell William J, Xiao Changrui, Vilain Eric, Berger Seth I
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...
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