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Related Experiment Video

Updated: Jun 23, 2025

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

Technologies to Study Genetics and Molecular Pathways.

Marcel Grunert^1,2, Cornelia Dorn¹, Ana Dopazo³

¹Cardiovascular Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.

Advances in Experimental Medicine and Biology

|June 17, 2024

Summary

Investigating congenital heart disease (CHD) utilizes diverse models and advanced molecular techniques. These tools are crucial for understanding heart development and the molecular basis of CHD.

Keywords:

ATAC-seq Animal models Array comparative genomic hybridization Array-CGH CLIP CRISPR Caenorhabditis elegans Cardiomyocytes Cell culture ChIP ChIP-seq Chicken Chromatin immunoprecipitation Clawed frog DNA methylation Drosophila melanogaster ES cells Embryonic stem cells Epigenome FACS FISH Fluorescence in situ hybridization Fluorescence-activated cell sorting Fruit fly GWAS Gallus gallus Genome-wide association studies Genotyping technologies Histological analysis Imaging Immunohistochemistry In situ hybridization Induced pluripotent ES cells MBD MRI MS Magnetic resonance imaging Mass spectrometry Metabolome Micro-CT Micro-computed tomography Morpholino oligonucleotides Mouse Mus musculus NGS NKX2-5 NMR Nematode Next-generation sequencing Nuclear magnetic resonance spectroscopy PAR-CLIP Phenotyping Proteome RNA-seq Rat Rattus norvegicus SILAC SNPs Sanger sequencing Single-nucleotide polymorphisms TALENs Transcription activator-like effector nucleases Transcriptome Xenopus laevis Yeast-two-hybrid ZFN Zebrafish Zinc finger nucleases iPSCs

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

Cardiovascular Biology
Developmental Biology
Genetics

Background:

Congenital heart disease (CHD) research has advanced significantly with new model systems and molecular techniques.
Understanding the genetic and molecular underpinnings of CHD is critical for diagnosis and treatment.

Purpose of the Study:

To provide a comprehensive overview of current models and technologies used in CHD research.
To highlight the integration of various biological levels, from genes to whole organisms, in studying heart development and disease.

Main Methods:

Description of diverse model systems: CHD patients, animal models (invertebrates to mammals), and cell cultures.
Overview of cardiac phenotyping technologies: mouse and cell culture analysis, live imaging, and histological methods.
Introduction to cutting-edge molecular biotechniques: genotyping, next-generation sequencing, and multi-omics analyses (transcriptome, epigenome, proteome, metabolome).

Main Results:

The chapter details a wide array of experimental models and manipulation techniques applicable to heart development studies.
It covers advanced phenotyping methods for assessing cardiac structure and function in various models.
Latest molecular techniques for comprehensive biological analysis are presented, enabling deep dives into CHD mechanisms.

Conclusions:

The discussed models and technologies are indispensable for studying heart function and development.
These tools are essential for elucidating the complex molecular pathways involved in congenital heart disease.
Integrating these approaches provides a holistic understanding of CHD etiology and progression.