Analysis of challenging products of conception cases with optical genome mapping: a preliminary study
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Presenting Author - Nikhil S. Sahajpal, PhD; Co-Author - Ashis K. Mondal, PhD; Co-Author - Harmanpreet Singh, PhD; Co-Author - Timothy Fee, PhD; Co-Author - Fatima E. Abidi, PhD, FACMG; Co-Author - Benjamin A. Hilton, PhD; Co-Author - Ravindra Kolhe, MD, PhD.; Co-Author - Barbara R. DuPont, PhD, FACMG;
Meta Tag
Chromosomal Abnormalities
Molecular Cytogenetics
Co-Author Ashis K. Mondal, PhD
Co-Author Harmanpreet Singh, PhD
Co-Author Timothy Fee, PhD
Co-Author Fatima E. Abidi, PhD, FACMG
Co-Author Benjamin A. Hilton, PhD
Co-Author Ravindra Kolhe, MD, PhD.
Co-Author Barbara R. DuPont, PhD, FACMG
Presenting Author Nikhil S. Sahajpal, PhD
Keywords
products of conception
optical genome mapping
genetic testing methods
maternal cell contamination
high molecular weight DNA
structural variants
genetic diagnostic yield
variant allele frequency
ACMG guidelines
data analysis

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