http://rdf.ncbi.nlm.nih.gov/pubchem/patent/EP-3539039-A1
Outgoing Links
Predicate | Object |
---|---|
assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_e41651508566f0385833e1ba14a21ffd |
classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6869 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B5-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B30-10 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B30-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B40-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B5-20 |
classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B5-20 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B40-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B30-10 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6869 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
filingDate | 2017-11-09-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_2feb1d8fde4ccd3812b941b542cbe3f5 |
publicationDate | 2019-09-18-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber | EP-3539039-A1 |
titleOfInvention | Methods, systems and computer readable media to correct base calls in repeat regions of nucleic acid sequence reads |
abstract | Methods, systems and non-transitory machine-readable storage medium are provided to mitigate insertion errors and deletion errors in STR sequences and improve accuracy in determination of the number of repeats. A method includes determining one or more optimum clusters for a set of flow space signal measurements, wherein at least one of the optimum clusters is associated with a homopolymer length, modifying a base call at the position in the repeat region sequence to the homopolymer length associated with the optimum cluster to produce a corrected repeat region sequence, thereby correcting an insertion error or a deletion error. The method may further include detecting variations in the flanks associating those variations with the length of the STR. |
priorityDate | 2016-11-10-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 34.