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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. Click to show full 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.
Keywords:
exome sequencing;
phenotyping;
perinatal phenotypes;
phenotypes significance;
sequencing perinatal;
significance deep
Journal Title: Prenatal Diagnosis
Year Published: 2019
Link to full text (if available)
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Journal Title: Prenatal Diagnosis
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!