Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more acc...
Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing
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Publisher
United States: John Wiley & Sons, Inc
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Language
English
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Publisher
United States: John Wiley & Sons, Inc
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Introduction
Distinguishing paracentric inversions (PAIs) from chromosomal insertions has traditionally relied on fluorescent in situ hybridization (FISH) techniques, but recent advancements in high‐throughput sequencing have enabled the use of genome sequencing for such differentiation. In this study, we present a 38‐year‐old male carrier of a...
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Full title
Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing
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Record Identifier
TN_cdi_swepub_primary_oai_swepub_ki_se_872021
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_swepub_ki_se_872021
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ISSN
0001-6349,1600-0412
E-ISSN
1600-0412
DOI
10.1111/aogs.14898
