Estimating tumor purity from single samples
US12217830B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | May 3, 2022 |
| Grant date | Feb 4, 2025 |
| Priority date | — |
| Expiry date | Jan 8, 2043 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/156
- WIPO fieldBiotechnology
- WIPO sectorChemistry
Abstract
The disclosure provides methods for estimating tumor purity from tumor samples without use of matched-normal controls. A set of genomic regions are identified based on a nucleic acid sequence data that is aligned to a reference genome. Each genomic region of the set of genomic regions includes one or more nucleotide-sequence variants relative to a corresponding genomic region of the reference genome. A B-allele frequency distribution for the biological sample is determined based on a B-allele frequency determined for each genomic region of the set of genomic regions. The B-allele frequency distribution is processed using a trained machine-learning model to estimate a metric identifying tumor purity in the biological sample.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.