| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_ff80631d1cf46c77e99d6ceb87310760 |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B40-10 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6869
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-10
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-20
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B30-10
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B30-20
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6827
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B50-30
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6858 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6869
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6858 |
| filingDate |
2019-09-04-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_982dd582d4e59fb498c49460f8e4389f
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_d357851a52e05d95cea941f1f82a8ee1
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_237a638e4f3278da22cf0a20b157418b
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_e20a4d7271ed6ff0fe19df2ed7b2dc5a |
| publicationDate |
2021-07-14-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
EP-3847276-A2 |
| titleOfInvention |
Methods and systems for detecting allelic imbalance in cell-free nucleic acid samples |
| abstract |
The present disclosure provides methods and systems for detecting an allelic imbalance in a sample from a subject, comprising: (a) sequencing cell-free DNA molecules from the sample to generate sequence reads; (b) aligning at least a portion of the sequence reads to a reference sequence to produce aligned sequence reads; (c) for at least a portion of the plurality of aligned sequence reads, identifying a germline variant present at a mutant allele fraction (MAF) in the sample, thereby identifying a set of germline variants in the sample, wherein individual germline variants in the set of germline variants have corresponding MAF values; (d) determining a quantitative measure of the set of germline variants that are among a plurality of discrete ranges of MAF values; and (e) detecting the allelic imbalance based on a predetermined criterion by filtering the set of germline variants based on at least the quantitative measure. |
| priorityDate |
2018-09-04-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |