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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."

The Scan

Study Points to Tuberculosis Protection by Gaucher Disease Mutation

A mutation linked to Gaucher disease in the Ashkenazi Jewish population appears to boost Mycobacterium tuberculosis resistance in a zebrafish model of the lysosomal storage condition, a new PNAS study finds.

SpliceVault Portal Provides Look at RNA Splicing Changes Linked to Genetic Variants

The portal, described in Nature Genetics, houses variant-related messenger RNA splicing insights drawn from RNA sequencing data in nearly 335,700 samples — a set known as the 300K-RNA resource.

Automated Sequencing Pipeline Appears to Allow Rapid SARS-CoV-2 Lineage Detection in Nevada Study

Researchers in the Journal of Molecular Diagnostics describe and assess a Clear Labs Dx automated workflow, sequencing, and bioinformatic analysis method for quickly identifying SARS-CoV-2 lineages.

UK Team Presents Genetic, Epigenetic Sequencing Method

Using enzymatic DNA preparation steps, researchers in Nature Biotechnology develop a strategy for sequencing DNA, along with 5-methylcytosine and 5-hydroxymethylcytosine, on existing sequencers.