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


ABSTRACT: 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 challenges towards target treatment via the synergy of state-of-the-art approaches and information technology tools. A complex structural variation detection remains challenging, as there is no gold standard for identifying such genomic variations with long reads, especially when the chromosomal rearrangement in question is a few Mb in length. A clinical case with a large complex chromosomal rearrangement serves as a paradigm. We feel that functional validation and data interpretation are of outmost importance for information growth to be translated into knowledge growth and hence, new working practices are highlighted.

SUBMITTER: Jenko Bizjan B 

PROVIDER: S-EPMC7026727 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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

Jenko Bizjan Barbara B   Katsila Theodora T   Tesovnik Tine T   Šket Robert R   Debeljak Maruša M   Matsoukas Minos Timotheos MT   Kovač Jernej J  

Computational and structural biotechnology journal 20191223


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 challenges towards target treatment via the synergy of state-of-the-art approaches and information technology tools. A complex structural variation detection remains challenging, as there is no gold st  ...[more]

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