LONG-read sequencing of human immunoglobulin gene introns to define a biomarker for in vivo DNA break repair

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Item Type:	Patent
Title:	LONG-read sequencing of human immunoglobulin gene introns to define a biomarker for in vivo DNA break repair
Creators Name:	de la Rosa, K., Vazquez Garcia, C. and Obermayer-Wasserscheid, B.
Abstract:	(57) Abstract: The present invention relates to a method for analyzing the DNA break repair machinery of a subject, in particular, for determining at least one deficiency in the DNA break repair machinery, and, on this basis, for predicting the DNA break repair efficiency ofthe subject. While the analysis is performed in B-cells and comprises analyzing switch-joints of the immunoglobulin heavy chain locus (IGH) of said B-cells, the results can generally be used to predict the risk to develop a cancer, an immunodeficiency such as common variable immunodeficiency (CVID) or a neurodevelopmental disease such as ataxia telangiectasi a (AT), for determining the prognosis of a cancer, or for selecting a method of treating a cancer. The invention also relates to a computer pro gram product comprising instructions which, when the program is executed by a computer, cause the computer to carry out specific steps of the analysis, and to a kit comprising said computer pro gram product. The method of the invention is also designated Switch-joint Breakpoint Repertoire Identification (SWIBRID).
Keywords:	Cancer, Genetics, Rare Diseases
Number of Pages:	84
Date:	26 September 2024
Official Publication:	https://doi.org/
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