The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.

The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.

Date of Patent:
Jun. 30, 2026

Filed:

Jul. 29, 2020
Applicant:

Menarini Silicon Biosystems S.p.a., Castel Maggiore, IT;

Inventors:

Nicolò Manaresi, Castel Maggiore, IT;

Marianna Garonzi, Castel Maggiore, IT;

Alberto Ferrarini, Castel Maggiore, IT;

Claudio Forcato, Castel Maggiore, IT;

Assignee:

Menarini Silicon Biosystems S.p.A., Castel Maggiore, IT;

Attorney:
Primary Examiner:
Assistant Examiner:
Int. Cl.
CPC ...
C12Q 1/6869 (2018.01); G16B 20/10 (2019.01); G16B 30/10 (2019.01);
U.S. Cl.
CPC ...
C12Q 1/6869 (2013.01); G16B 20/10 (2019.02); G16B 30/10 (2019.02);
Abstract

A method for analyzing loss-of-heterozygosity (LoH) in at least one sample comprising genomic DNA can include: a. providing the sample comprising genomic DNA; b. carrying out a deterministic restriction-site whole genome amplification (DRS-WGA) of said genomic DNA; c. preparing a massively parallel sequencing library from the product of said DRS-WGA; d. carrying out low-pass whole genome sequencing at a mean coverage depth of <1 on said massively parallel sequencing library; e. aligning the reads obtained in step d. on a reference genome for said at least one sample; f. extracting the allelic content at a plurality of loci, wherein said plurality of loci comprises polymorphic loci and/or heterozygous loci; g. assigning an LoH score to at least one genomic window of said reference genome for said at least one sample as a function of the number of loci with at least two different alleles in said plurality of loci.


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