Exome sequencing for perinatal phenotypes: The significance of deep phenotyping
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DOI: 10.1002/pd.5616
Abstract: To ascertain the performance of exome sequencing (ES) technology for determining the etiological basis of abnormal perinatal phenotypes and to study the impact of comprehensive phenotyping on variant prioritization. read more here.
Keywords: exome sequencing; phenotyping; perinatal phenotypes; phenotypes significance ... See more keywords