Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP85247.RABXtNdSAcZdB5C6DBqOvq1yPM_Fhma2D_HHO-HxskHaI130_assertion> ?p ?o ?g. }
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- NP85247.RABXtNdSAcZdB5C6DBqOvq1yPM_Fhma2D_HHO-HxskHaI130_assertion type Assertion NP85247.RABXtNdSAcZdB5C6DBqOvq1yPM_Fhma2D_HHO-HxskHaI130_head.
- NP85247.RABXtNdSAcZdB5C6DBqOvq1yPM_Fhma2D_HHO-HxskHaI130_assertion description "[We designed a custom resequencing chip that can detect known and new sequence changes in 90 retinal disease genes using a new high-throughput strategy with a high sensitivity and specificity for one tenth of the cost of conventional direct sequencing. The developed amplification strategy allows for the pooling of multiple patients with non-overlapping phenotypes, enabling many patients to be analyzed simultaneously in a fast and cost-effective manner.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP85247.RABXtNdSAcZdB5C6DBqOvq1yPM_Fhma2D_HHO-HxskHaI130_provenance.
- NP85247.RABXtNdSAcZdB5C6DBqOvq1yPM_Fhma2D_HHO-HxskHaI130_assertion evidence source_evidence_literature NP85247.RABXtNdSAcZdB5C6DBqOvq1yPM_Fhma2D_HHO-HxskHaI130_provenance.
- NP85247.RABXtNdSAcZdB5C6DBqOvq1yPM_Fhma2D_HHO-HxskHaI130_assertion SIO_000772 20801516 NP85247.RABXtNdSAcZdB5C6DBqOvq1yPM_Fhma2D_HHO-HxskHaI130_provenance.
- NP85247.RABXtNdSAcZdB5C6DBqOvq1yPM_Fhma2D_HHO-HxskHaI130_assertion wasDerivedFrom gad-20130706 NP85247.RABXtNdSAcZdB5C6DBqOvq1yPM_Fhma2D_HHO-HxskHaI130_provenance.
- NP85247.RABXtNdSAcZdB5C6DBqOvq1yPM_Fhma2D_HHO-HxskHaI130_assertion wasGeneratedBy ECO_0000203 NP85247.RABXtNdSAcZdB5C6DBqOvq1yPM_Fhma2D_HHO-HxskHaI130_provenance.