Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes

Abstract Long-read sequencing can often overcome the deficiencies in routine microarray or short-read technologies in detecting complex genomic rearrangements. Here we used Pacific Biosciences circular consensus sequencing to resolve complex rearrangements in two patients with rare genetic anomalies...

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Bibliographic Details

Published in:	npj Genomic Medicine
Main Authors:	Iftekhar A. Showpnil, Maria E. Hernandez Gonzalez, Swetha Ramadesikan, Mohammad Marhabaie, Allison Daley, Leeran Dublin-Ryan, Matthew T. Pastore, Umamaheswaran Gurusamy, Jesse M. Hunter, Brandon S. Stone, Dennis W. Bartholomew, Kandamurugu Manickam, Anthony R. Miller, Richard K. Wilson, Rolf W. Stottmann, Daniel C. Koboldt
Format:	Article
Language:	English
Published:	Nature Portfolio 2024-12-01
Online Access:	https://doi.org/10.1038/s41525-024-00454-4