From Stem Cells to Populations—Using hiPSC, Next-Generation Sequencing, and GWAS to Explore the Genetic and Molecular Mechanisms of Congenital Heart Defects

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Broberg , M , Hästbacka , J & Helle , E 2021 , ' From Stem Cells to Populations—Using hiPSC, Next-Generation Sequencing, and GWAS to Explore the Genetic and Molecular Mechanisms of Congenital Heart Defects ' , Genes , vol. 12 , no. 6 , 921 . https://doi.org/10.3390/genes12060921

Title: From Stem Cells to Populations—Using hiPSC, Next-Generation Sequencing, and GWAS to Explore the Genetic and Molecular Mechanisms of Congenital Heart Defects
Author: Broberg, Martin; Hästbacka, Johanna; Helle, Emmi
Contributor: University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, HUS Children and Adolescents
University of Helsinki, STEMM - Stem Cells and Metabolism Research Program
Date: 2021-06
Language: eng
Number of pages: 13
Belongs to series: Genes
ISSN: 2073-4425
URI: http://hdl.handle.net/10138/333587
Abstract: Congenital heart defects (CHD) are developmental malformations affecting the heart and the great vessels. Early heart development requires temporally regulated crosstalk between multiple cell types, signaling pathways, and mechanical forces of early blood flow. While both genetic and environmental factors have been recognized to be involved, identifying causal genes in non-syndromic CHD has been difficult. While variants following Mendelian inheritance have been identified by linkage analysis in a few families with multiple affected members, the inheritance pattern in most familial cases is complex, with reduced penetrance and variable expressivity. Furthermore, most non-syndromic CHD are sporadic. Improved sequencing technologies and large biobank collections have enabled genome-wide association studies (GWAS) in non-syndromic CHD. The ability to generate human to create human induced pluripotent stem cells (hiPSC) and further differentiate them to organotypic cells enables further exploration of genotype–phenotype correlations in patient-derived cells. Here we review how these technologies can be used in unraveling the genetics and molecular mechanisms of heart development.
Subject: COPY-NUMBER VARIANTS
DE-NOVO MUTATIONS
DISEASE
EXOME
GENOME-WIDE ASSOCIATION
IMPACT
METAANALYSIS
NOTCH1 MUTATIONS
PATIENT
RISK LOCI
congenital heart disease
genetics
genome-wide association studies
human induced pluripotent stem cells
massively parallel sequencing
3111 Biomedicine
1184 Genetics, developmental biology, physiology
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