Clinical Perspective on Use of Long-Read Sequencing in Prenatal Diagnosis of Thalassemia.

Clinical chemistry
Authors
Keywords
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
Journal
Clinical chemistry
Volume
69
Issue
3
Pages
211-212
Date Published
03/2023
ISSN
1530-8561
DOI
10.1093/clinchem/hvac223
PubMed ID
36648456
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