NPGREAT: assembly of human subtelomere regions with the use of ultralong nanopore reads and linked-reads

Abstract Background Human subtelomeric DNA regulates the length and stability of adjacent telomeres that are critical for cellular function, and contains many gene/pseudogene families. Large evolutionarily recent segmental duplications and associated structural variation in human subtelomeres has ma...

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Bibliographic Details
Main Authors: Eleni Adam, Desh Ranjan, Harold Riethman
Format: Article
Language:English
Published: BMC 2022-12-01
Series:BMC Bioinformatics
Subjects:
Online Access:https://doi.org/10.1186/s12859-022-05081-3