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EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

29 Apr 2020

Abstract excerpt

BACKGROUND: The contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood. Further, the relationship between mosaicism in blood and cardiovascular tissue has not been determined. METHODS: We developed a new computational method, EM-mosaic (Expectation-Maximization-based detection of mosaicism), to analyze mosaicism in exome...

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PMID: 32349777
DOI: 10.1186/s13073-020-00738-1

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