Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplan...
Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms
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Author / Creator
Chen, Dongjia , Xu, Yan , Fu, Yu , Wang, Yali , Liu, Yuliang , Ding, Chenhui , Cai, Bing , Pan, Jiafu , Wang, Jing , Li, Rong , Guo, Jing , Zhang, Han , Zeng, Yanhong , Shen, Xiaoting and Zhou, Canquan
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
Preimplantation genetic testing (PGT) for monogenic disorders (PGT-M) for germline mosaicism was previously highly dependent on polymerase chain reaction (PCR)-based directed mutation detection combined with linkage analysis of short tandem repeats (STRs). However, the number of STRs is usually limited. In addition, designing suitable probes and op...
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Full title
Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_354498f8f3a545ae825d1cf2ff34b523
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_354498f8f3a545ae825d1cf2ff34b523
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-023-02736-z
