Ontology highlight
ABSTRACT:
SUBMITTER: Jenko Bizjan B
PROVIDER: S-EPMC7026727 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
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]