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US 2024/0254550 A1Published application
A method of identifying ultra-rare genetic variants
AssigneeCarmel-Haifa University Economic Corp. Ltd.
InventorsAdi LIVNAT, Daniel MELAMED
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Abstract
The invention concerns methods of identifying genetic variants in a DNA sample comprising a first step of removing wild-type DNA sequences thereby enriching the sample with DNA sequences containing the genetic variant, while calculating an enrichment factor, and a second step of determining the number of genetic variants in said DNA sample.
Claims28
A method of identifying genetic variants in DNA;
- said method comprising:
- a. Providing a sample of isolated DNA, wherein said DNA comprises wild-type DNA sequences and optionally one or more DNA sequences containing a genetic variant in one or more regions of interest (ROIs);
- b. Removing said wild-type DNA sequences from said sample, thereby enriching the sample with DNA sequences containing the genetic variant;
- c. Determining the number of the wild-type sequences that were removed by calculating an enrichment factor (£);
- and d. Determining the number of genetic variants in said DNA sample.
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Dependencies are inferred from the claim text.