Importance Of Parental Segregation Studies and its Role in Variant Classification
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Presenting Author - Shruti Sureshkumar, M.SC, GC; Co-Author - Arul Joseph Duraisamy, PhD; Co-Author - Lakshmanan Jagannathan, PhD; Co-Author - Rajiv Rose, PH.D; Co-Author - Christin D. Collins, PhD, FACMG; Co-Author - Madhuri Hegde, PhD, FACMG;
Meta Tag
Clinical History
Genetic Testing
Genotype-Phenotype Correlations
NextGen Sequencing
Variant Detection
Co-Author Arul Joseph Duraisamy, PhD
Co-Author Lakshmanan Jagannathan, PhD
Co-Author Rajiv Rose, PH.D
Co-Author Christin D. Collins, PhD, FACMG
Co-Author Madhuri Hegde, PhD, FACMG
Presenting Author Shruti Sureshkumar, M.SC, GC
Keywords
genetic testing
diagnosing genetic disorders
managing genetic disorders
interpretation of results
parental testing
parental segregation studies
reclassifying gene variants
uncertain significance
likely pathogenic
likely benign

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