General/Oncology

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

  • Authors: Leandros Boukas; Emmanuèle C Délot; Georgia Pitsava; Christine Lambert; Cairbre Fanslow; Primo Baybayan; Sami Belhadj; Bojan Losic; John Harting; Krista Bluske; Jonathan LoTempio; Huda B Al-Kouatly; Rachid Karam; William J Rowell; Changrui Xiao; Eric Vilain; Seth I Berger
  • Collaborators: Boston Children's Hospital; George Washington University; PacBio; Thomas Jefferson University; University of California, Irvine; University of Pennsylvania
  • Journal: American Journal of Human Genetics
  • Date: 2026 - Mar

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