GSA: an independent development algorithm for calling copy number and detecting homologous recombination deficiency (HRD) from target capture sequencing

Background The gain or loss of large chromosomal regions or even whole chromosomes is termed as genomic scarring and can be observed as copy number variations resulting from the failure of DNA damage repair. Results In this study, a new algorithm called genomic scar analysis (GSA) has developed and...

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Veröffentlicht in:	BMC bioinformatics Jg. 22; H. 1; S. 562 - 19
Hauptverfasser:	Chen, Dongju, Shao, Minghui, Meng, Pei, Wang, Chunli, Li, Qi, Cai, Yuhang, Song, Chengcheng, Wang, Xi, Shi, Taiping
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	London BioMed Central 23.11.2021 BioMed Central Ltd Springer Nature B.V BMC
Schlagworte:	Algorithms Analysis Bioinformatics Biomarkers Biomedical and Life Sciences BRCA mutations BRCA1 protein Breast cancer Chromosomes Clinical trials Computational Biology/Bioinformatics Computer Appl. in Life Sciences Copy number Copy number variations DNA Copy Number Variations DNA damage DNA Repair Epigenetics FDA approval Genes Genomes Genomic analysis Genomic instability Genomic scar analysis Genomics Genotypes Health aspects High-Throughput Nucleotide Sequencing Homologous Recombination Homologous recombination deficiency Homologous recombination repair Homology Humans Identification and classification Life Sciences Mathematical analysis Methods Microarrays Mutation Neoplasms - genetics Ovarian cancer p53 Protein Ploidies Ploidy Purity Quality control Scars Segmentation Sequences Software Tumor purity and ploidy correction Tumor suppressor genes Tumors China Genomic scar analysis Segmentation Copy number variations Tumor purity and ploidy correction Homologous recombination deficiency
ISSN:	1471-2105, 1471-2105
Online-Zugang:	Volltext
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