Identification of de novo variants from parent-proband duos via long-read sequencing

Presenting Author: Leandros Boukas, MD, Children's National; Boston Children's

Take home point:

• Being able to tell if a variant is de novo or inherited is critical for variant classification but is not possible unless you have both parents.  We developed a tool using long-read sequencing leveraging phased haplotyping which allows determination of de novo status for many variants when only one biologic parent is available.  We show the high specificity and sensitivity of this approach.

• Speakers: L. Boukas; E. C. Délot; G. Pitsava; C. Lambert; C. Fanslow; P. Baybayan; S. Belhadj; B. Losic; J. Harting; K. Bluske; J. LoTempio; H. B. Al-Kouatly; R. Karam; W. J. Rowell; C. Xiao; E. Vilain; S. I. Berger
• Collaborators: Boston Children's Hospital; George Washington University; Thomas Jefferson University; University of California, Irvine
• Conference: ASHG 2025
• Date: Thursday, Oct 16, 2025 11:00am - 11:15am