Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism—MAGEL2 as an example

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Bibliographische Detailangaben
Veröffentlicht in:	Genetics in medicine 2017-11, Vol.19 (11), p.1285-1286
Hauptverfasser:	Palomares-Bralo, María, Vallespín, Elena, del Pozo, Ángela, Ibañez, Kristina, Silla, Juan Carlos, Galán, Enrique, Gordo, Gema, Martínez-Glez, Víctor, Alba-Valdivia, Lázaro I, Heath, Karen E, García-Miñaúr, Sixto, Lapunzina, Pablo, Santos-Simarro, Fernando
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/1516 631/208/2489/1381/1661 631/208/514/1948 Biomedical and Life Sciences Biomedicine Child Exome Female Genetic Diseases, Inborn - diagnosis Genetic Diseases, Inborn - genetics Genetic Testing - methods Genomic Imprinting Genotype Human Genetics Humans Laboratory Medicine letter-to-the-editor Male Mosaicism Mutation Parents Phenotype Proteins - genetics Whole Exome Sequencing - methods
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