Third-generation sequencing for genetic disease

A novel growth-friendly system alleviates pulmonary dysplasia in early-onset scoliosis combined with thoracic insufficiency syndrome: Radiological, pathological, and transcriptomic assessments

“…Microarrays, high-throughput sequencing, and bioinformatics-related dry Labs offer more possibilities and developments for the exploration of molecular mechanisms [ [19] , [20] , [21] ]. Therefore, we microscopically explored the molecular mechanisms of the novel growth-friendly system on lung development using RNA-seq.…”

The Third-Generation Sequencing Challenge: Novel Insights for the Omic Sciences

“…Mehinovic et al analyzed a family in which two out of the three children were affected by autism and epilepsy episodes and identified a de novo missense variant in the KCNC2 gene potentially related to the familial phenotype [34]. Recently, a growing amount of evidence has supported PacBio sequencing as an affordable tool for the genetic diagnosis of thalassemia, especially in the presence of rare variants (mainly deletions) or genetic recombination [35]. In this context, Liang et al developed a PacBio-based comprehensive analysis tool for thalassemia, the CATSA, and used it to analyze 1759 samples, showing its ability to identify common and rare variants, thus increasing diagnostic sensitivity [36].…”