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Article

Robust identification of mosaic variants in congenital heart disease.

Human genetics - 1 Feb 2018

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

Abstract excerpt

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 developed to identify low-frequency variants, specifically from matched tumor-normal tissues in cancer studies. To...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29417219
DOI: 10.1007/s00439-018-1871-6
PMCID: PMC5997246

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