Optical Genome Mapping: Integrating Structural Variations for Precise Homologous Recombination Deficiency Score Calculation

Optical Genome Mapping: Integrating Structural Variations for Precise Homologous Recombination Deficiency Score Calculation

Homologous recombination deficiency (HRD) is characterized by the inability of a cell to repair the double-stranded breaks using the homologous recombination repair (HRR) pathway. The deficiency of the HRR pathway results in defective DNA repair, leading to genomic instability and tumorigenesis. The...

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Bibliographic Details
Main Authors: Nikhil Shri Sahajpal, Ashis K. Mondal, Ashutosh Vashisht, Harmanpreet Singh, Andy Wing Chun Pang, Daniel Saul, Omar Nivin, Benjamin Hilton, Barbara R. DuPont, Vamsi Kota, Natasha M. Savage, Alex R. Hastie, Alka Chaubey, Ravindra Kolhe
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:Genes
Subjects:
optical genome mapping
homologous recombination deficiency
HRD scores
Online Access:https://www.mdpi.com/2073-4425/14/9/1683

Internet

https://www.mdpi.com/2073-4425/14/9/1683

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