Study Points to Long-Read Potential in Prenatal Thalassemia Diagnostic Setting

A team from China takes a look at long-read sequencing applicability in prenatal diagnoses, particularly focusing on the monogenic autosomal recessive blood disorder thalassemia. As they report in Clinical Chemistry, the researchers used targeted long-read sequencing-based approach called comprehensive analysis of thalassemia alleles, or CATSA, to unearth four rare thalassemia-related variants in alpha- and beta-globin genes, along with 10 variants of uncertain significance. In addition, they say, the long-read sequencing and CATSA approach uncovered results that were concordant with those found by PCR-based strategies nearly 95 percent of the time, while CATSA led to variants within or beyond PCR-targeted regions in another 15 fetuses. From these and other results, the authors argue that CATSA "represents a more comprehensive and accurate approach that potentially enables more informed genetic counseling and improved clinical outcomes compared to PCR-based methods."