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Article

Efficient identification of de novo mutations in family trios: a consensus-based informatic approach.

Life science alliance - 1 Jun 2025

Shadrina Mariya, Kalay Özem, Demirkaya-Budak Sinem, LeDuc Charles A, Chung Wendy K, Turgut Deniz, Budak Gungor, Arslan Elif, Semenyuk Vladimir, Davis-Dusenbery Brandi, Seidman Christine E, Yost H Joseph, Jain Amit, Gelb Bruce D

Abstract excerpt

Accurate identification of de novo variants (DNVs) remains challenging despite advances in sequencing technologies, often requiring ad hoc filters and manual inspection. Here, we explored a purely informatic, consensus-based approach for identifying DNVs in proband-parent trios using short-read genome sequencing data. We evaluated variant calls generated by three sequence analysis pipelines-GATK HaplotypeCaller,...

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PMID: 40155050
DOI: 10.26508/lsa.202403039
PMCID: PMC11953573

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