Genetic and genomic approaches to pulmonary vascular diseases

Abstract

Pulmonary vascular diseases include pulmonary arterial hypertension, pulmonary venous hypertension, pulmonary embolism and chronic thromboembolic disease. The mutations of BMPR2 were identified as major causes of primary pulmonary hypertension. The Factor V Leiden mutation is the most common genetic risk for pulmonary embolism. Candidate gene studies, genome-wide association studies, epigenetic studies, transcriptional profiling, miRNA profiling also identified novel causes for the diseases. Genetic and genomic approaches for pulmonary vascular disease provided new insights of the mechanisms and revealed the novel therapeutic targets. In this review, we summarise the current progress of genetic and genomic approaches for pulmonary vascular diseases and also discuss the future directions of the research for the diseases.

Stereotyped cell lineage trees support robust development

“…For example, scGESTALT simultaneously determined cell states by single-cell transcriptomics and the corresponding CLT via lineage barcodes 23 . Similar methods 18,19 provide a combined view of single-cell states and CLTs, enabling CLT-based analyses of robustness for different developmental models.…”

“…The developmental process encompasses both the history of cell divisions and state transitions 18,19 . It is thus possible to examine development, as well as its robustness, from two perspectives.…”

“…This CLT-based perspective, however, has been much less studied due to the difficulty in obtaining CLTs in complex organisms. Nonetheless, recent technological advancements in CLT reconstruction, particularly those utilizing genomic barcoding 19 , have led to new opportunities for joint analyses of these two perspectives. For example, scGESTALT simultaneously determined cell states by single-cell transcriptomics and the corresponding CLT via lineage barcodes 23 .…”