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Updated: Feb 27, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
High precision detection of conserved segments from synteny blocks
Joseph Mex Lucas1, Hugues Roest Crollius1
1IBENS, Département de Biologie, Ecole Normale Supérieure, CNRS, Inserm, PSL Research, University, Paris, France.
Abstract:
A conserved segment, i.e. a segment of chromosome unbroken during evolution, is an important operational concept in comparative genomics. Until now, algorithms that are designed to identify conserved segments often return synteny blocks that overlap, synteny blocks that include micro-rearrangements or synteny blocks erroneously short. Here we present definitions of conserved segments and synteny blocks independent of any heuristic method and we describe four new post-processing strategies to refine synteny blocks into accurate conserved segments. The first strategy identifies micro-rearrangements, the second strategy identifies mono-genic conserved segments, the third returns non-overlapping segments and the fourth repairs incorrect ruptures of synteny. All these refinements are implemented in a new version of PhylDiag that has been benchmarked against i-ADHoRe 3.0 and Cyntenator, based on a realistic simulated evolution and true simulated conserved segments.
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