Clinical Perspective on Use of Long-Read Sequencing in Prenatal Diagnosis of Thalassemia.
Clinical chemistry
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| Abstract | This is an editorial focusing on the clinical perspective of a long-read sequencing method in the prenatal diagnosis of alpha- and beta-thalassemia, including a comparison between this method and standard PCR-based methods. Though incremental, the increased sensitivity and specificity using long-read sequencing is an important advantage of this methodology in the prenatal diagnostic arena due to false positive or false negative results having greater consequence when a family is making decisions about their pregnancy. |
| Year of Publication | 2023
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| Journal | Clinical chemistry
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| Volume | 69
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| Issue | 3
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| Pages | 211-212
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| Date Published | 03/2023
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| ISSN | 1530-8561
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| DOI | 10.1093/clinchem/hvac223
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| PubMed ID | 36648456
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