Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease
Tambi R, Zehra B, Nandkishore S, Sharafat S, Kader F, Nassir N, Mohamed N, Ahmed A, Abdel Hameid R, Alasrawi S, Brueckner M, Kuebler W, Chung W, Alsheikh-Ali A, Di Donato R, Uddin M, Berdiev B. Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease. Physiological Genomics 2023, 55: 634-646. PMID: 37811720, DOI: 10.1152/physiolgenomics.00070.2023.Peer-Reviewed Original ResearchConceptsSingle-cell transcriptomesCHD genesRisk genesEndocardial cellsMultiple genesCell typesSingle-cell transcriptomicsPhenotypic heterogeneityDe novo variantsCongential heart diseaseSingle-cell reconstructionGenesReconstruction analysisNeonatal congenital anomaliesGene heterogeneityAnalysis identifiesTranscriptomeMissense variantsNovo variantsCongenital heart diseaseGenomicsHeterogenous expressionFunction variantsHeart diseaseGenetics guidelines