Challenges in identifying large germline structural variants for clinical use by long read sequencing

Genomic structural variations, previously considered rare events, are widely recognized as a major source of inter-individual variability and hence, a major hurdle in optimum patient stratification and disease management. Herein, we focus on large complex germline structural variations and present c...

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Bibliografiske detaljer
Udgivet i:Comput Struct Biotechnol J
Main Authors: Jenko Bizjan, Barbara, Katsila, Theodora, Tesovnik, Tine, Šket, Robert, Debeljak, Maruša, Matsoukas, Minos Timotheos, Kovač, Jernej
Format: Artigo
Sprog:Inglês
Udgivet: Research Network of Computational and Structural Biotechnology 2019
Fag:
Review Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7026727/
https://ncbi.nlm.nih.gov/pubmed/32099591
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.csbj.2019.11.008
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