Trio-R: a script for assessing maternity and paternity in trio studies performed on Agilent chromosomal microarrays

Abstract Background Trio studies, which involve the testing of samples from a proband and both parents, are often used by clinical laboratories to help with the classification of genetic variants, including copy number variants. In order for the results of the trio study to be valid, the mother and...

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Autors principals:	Daniel Xia, Chen Zhang, Va Lip, Marian Harris, Yiping Shen
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2018-11-01
Col·lecció:	BMC Medical Informatics and Decision Making
Matèries:	Chromosomal microarrays Trio studies Single nucleotide polymorphisms Non-paternity Pre-analytical errors
Accés en línia:	http://link.springer.com/article/10.1186/s12911-018-0684-9
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