Efficiency of Genome Sequencing in Establishing Molecular Diagnosis in Undiagnosed Patients
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Presenting Author - Arul Duraisamy, PhD; Co-Author - Lakshmanan Jagannathan, PhD; Co-Author - Shruti Sureshkumar, M.SC, GC; Co-Author - Rajiv Rose, PH.D; Co-Author - Christin D. Collins, PhD, FACMG; Co-Author - Madhuri Hegde, PhD, FACMG;
Meta Tag
Exome sequencing
Genetic Testing
Genome sequencing
NextGen Sequencing
Phenotype
Variant Detection
Co-Author Lakshmanan Jagannathan, PhD
Co-Author Shruti Sureshkumar, M.SC, GC
Co-Author Rajiv Rose, PH.D
Co-Author Christin D. Collins, PhD, FACMG
Co-Author Madhuri Hegde, PhD, FACMG
Presenting Author Arul Duraisamy, PhD
Keywords
genome sequencing
molecular diagnoses
undiagnosed patients
inherited genetic diseases
clinical information
genomic data
phenotypes
pathogenic single exon copy number loss
trinucleotide repeat expansions
genetic testing methods

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