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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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Detalles Bibliográficos
Autores principales: Sahajpal, Nikhil Shri, Mondal, Ashis K., Vashisht, Ashutosh, Singh, Harmanpreet, Pang, Andy Wing Chun, Saul, Daniel, Nivin, Omar, Hilton, Benjamin, DuPont, Barbara R., Kota, Vamsi, Savage, Natasha M., Hastie, Alex R., Chaubey, Alka, Kolhe, Ravindra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530691/
https://www.ncbi.nlm.nih.gov/pubmed/37761823
http://dx.doi.org/10.3390/genes14091683