Matches in SemOpenAlex for { <https://semopenalex.org/work/W4385680647> ?p ?o ?g. }
Showing items 1 to 75 of
75
with 100 items per page.
- W4385680647 endingPage "1216" @default.
- W4385680647 startingPage "1211" @default.
- W4385680647 abstract "To apply Bionano Saphyr visual full-length DNA optical mapping technology to the precise genetic diagnosis of hemophilia A carriers.For 2 suspected F8 gene deficiency female carriers who could not be diagnosed by conventional next-generation sequencing technology, the full-length DNA optical mapping technology was used to detect and scan the sample X chromosome full-length visual haplotype characteristic map, which was compared with the normal haplotype. The gene structure variation information of the samples was obtained by compare with DNA atlas library.The average fluorescent marker length of the X chromosome DNA molecular where the F8 gene was located in the two samples was greater than 2.5 Mbp, and the average copy number was greater than 20×. After comparative analysis, one of the samples was a proximal inversion of intron 22 of the F8 gene, and another was an inversion of intron 22 accompanied by multiple deletions of large fragments.Bionano technology has a good detection rate for gene defects with large length and complex variation. In the absence of a proband or accurate genetic diagnosis results of the proband, the application of this technology to detect the heterozygous complex variant of the F8 gene is of great significance for the prenatal diagnosis and pre-pregnancy diagnosis of hemophilia carriers.Bionano-DNA全长光学图谱技术在血友病A携带者基因诊断中的应用.尝试将Bionano Saphyr可视化全长DNA光学图谱技术应用于血友病A携带者的精准基因诊断.针对2例应用常规二代测序技术无法诊断的可疑F8基因缺陷女性携带者，采用DNA全长光学图谱技术，检测扫描获得样本X染色体全长可视化单倍型特征性图谱，与正常人群DNA图谱库进行比对，获得待测样本的基因结构变异信息.2例检测样本F8基因的X染色体DNA分子平均荧光标记长度大于2.5 Mbp，平均拷贝数大于20×。经比对分析，其中1例样本为F8基因22号内含子近端倒位，1例为22号内含子倒位同时伴有多处大片段缺失.Bionano技术对于长度大、变异复杂的基因缺陷有很好的检出率。在无先证者或缺少先证者精准基因诊断结果的情况下，应用该技术检出F8基因的杂合复杂变异对血友病携带者的优生优育、孕前诊断有重要意义." @default.
- W4385680647 created "2023-08-09" @default.
- W4385680647 creator A5000060971 @default.
- W4385680647 creator A5000508636 @default.
- W4385680647 creator A5007504059 @default.
- W4385680647 creator A5039555629 @default.
- W4385680647 creator A5054997017 @default.
- W4385680647 creator A5057292815 @default.
- W4385680647 creator A5059356708 @default.
- W4385680647 creator A5074496290 @default.
- W4385680647 creator A5075915271 @default.
- W4385680647 creator A5089182592 @default.
- W4385680647 date "2023-08-08" @default.
- W4385680647 modified "2023-09-27" @default.
- W4385680647 title "[Application of Bionano-DNA Full-Length Optical Mapping Technology in Genetic Diagnosis of Hemophilia A Carriers]." @default.
- W4385680647 doi "https://doi.org/10.19746/j.cnki.issn.1009-2137.2023.04.043" @default.
- W4385680647 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37551500" @default.
- W4385680647 hasPublicationYear "2023" @default.
- W4385680647 type Work @default.
- W4385680647 citedByCount "0" @default.
- W4385680647 crossrefType "journal-article" @default.
- W4385680647 hasAuthorship W4385680647A5000060971 @default.
- W4385680647 hasAuthorship W4385680647A5000508636 @default.
- W4385680647 hasAuthorship W4385680647A5007504059 @default.
- W4385680647 hasAuthorship W4385680647A5039555629 @default.
- W4385680647 hasAuthorship W4385680647A5054997017 @default.
- W4385680647 hasAuthorship W4385680647A5057292815 @default.
- W4385680647 hasAuthorship W4385680647A5059356708 @default.
- W4385680647 hasAuthorship W4385680647A5074496290 @default.
- W4385680647 hasAuthorship W4385680647A5075915271 @default.
- W4385680647 hasAuthorship W4385680647A5089182592 @default.
- W4385680647 hasConcept C104317684 @default.
- W4385680647 hasConcept C135763542 @default.
- W4385680647 hasConcept C153911025 @default.
- W4385680647 hasConcept C172680121 @default.
- W4385680647 hasConcept C188997412 @default.
- W4385680647 hasConcept C197754878 @default.
- W4385680647 hasConcept C2778258057 @default.
- W4385680647 hasConcept C2779234561 @default.
- W4385680647 hasConcept C501734568 @default.
- W4385680647 hasConcept C54355233 @default.
- W4385680647 hasConcept C552990157 @default.
- W4385680647 hasConcept C86803240 @default.
- W4385680647 hasConceptScore W4385680647C104317684 @default.
- W4385680647 hasConceptScore W4385680647C135763542 @default.
- W4385680647 hasConceptScore W4385680647C153911025 @default.
- W4385680647 hasConceptScore W4385680647C172680121 @default.
- W4385680647 hasConceptScore W4385680647C188997412 @default.
- W4385680647 hasConceptScore W4385680647C197754878 @default.
- W4385680647 hasConceptScore W4385680647C2778258057 @default.
- W4385680647 hasConceptScore W4385680647C2779234561 @default.
- W4385680647 hasConceptScore W4385680647C501734568 @default.
- W4385680647 hasConceptScore W4385680647C54355233 @default.
- W4385680647 hasConceptScore W4385680647C552990157 @default.
- W4385680647 hasConceptScore W4385680647C86803240 @default.
- W4385680647 hasIssue "4" @default.
- W4385680647 hasLocation W43856806471 @default.
- W4385680647 hasOpenAccess W4385680647 @default.
- W4385680647 hasPrimaryLocation W43856806471 @default.
- W4385680647 hasRelatedWork W1492525913 @default.
- W4385680647 hasRelatedWork W2002265705 @default.
- W4385680647 hasRelatedWork W2060631033 @default.
- W4385680647 hasRelatedWork W2089347184 @default.
- W4385680647 hasRelatedWork W2355055307 @default.
- W4385680647 hasRelatedWork W2399496085 @default.
- W4385680647 hasRelatedWork W2406299158 @default.
- W4385680647 hasRelatedWork W2917934819 @default.
- W4385680647 hasRelatedWork W3004404910 @default.
- W4385680647 hasRelatedWork W2343725014 @default.
- W4385680647 hasVolume "31" @default.
- W4385680647 isParatext "false" @default.
- W4385680647 isRetracted "false" @default.
- W4385680647 workType "article" @default.