Robust identification of mosaic variants in congenital heart disease

Mosaicism due to somatic mutations can cause multiple diseases including cancer, developmental and overgrowth syndromes, neurodevelopmental disorders, autoinflammatory diseases, and atrial fibrillation. With the increased use of next generation sequencing technology, multiple tools have been develop...

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Veröffentlicht in:	Human genetics 2018-02, Vol.137 (2), p.183-193
Hauptverfasser:	Manheimer, Kathryn B., Richter, Felix, Edelmann, Lisa J., D’Souza, Sunita L., Shi, Lisong, Shen, Yufeng, Homsy, Jason, Boskovski, Marko T., Tai, Angela C., Gorham, Joshua, Yasso, Christopher, Goldmuntz, Elizabeth, Brueckner, Martina, Lifton, Richard P., Chung, Wendy K., Seidman, Christine E., Seidman, J. G., Gelb, Bruce D.
Format:	Artikel
Sprache:	eng
Schlagworte:	Atrial fibrillation Biomedical and Life Sciences Biomedicine Cancer Cardiovascular disease Child Congenital diseases Congenital heart defects Coronary artery disease Data processing Development and progression Etiology Exome - genetics Exome Sequencing Fibrillation Gene Function Genetic aspects Genetic disorders Genetic Variation Health aspects Heart Defects, Congenital - genetics Heart Defects, Congenital - physiopathology Heart diseases High-Throughput Nucleotide Sequencing Human Genetics Humans Metabolic Diseases Molecular Medicine Mosaicism Mutation Neurodevelopmental disorders Original Investigation Peripheral blood Saliva Software
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