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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Efficiency of Genome Sequencing in Establishing Mo ...
Efficiency of Genome Sequencing in Establishing Molecular Diagnosis in Undiagnosed Patients
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This document is a summary of a study that explores the efficiency of genome sequencing (GS) in establishing molecular diagnoses in undiagnosed patients with inherited genetic diseases. The study highlights the importance of detailed clinical information in analyzing genomic data.<br /><br />The study presents several case presentations of patients with various phenotypes, including developmental delays, motor and language delays, intellectual disabilities, and neurological and physical abnormalities. In one case, a pathogenic single exon copy number loss in the MECP2 gene was identified using GS, which provided uniform coverage helpful in detection. In another case, trinucleotide repeat expansions in the ZIC2 and ATXN7 genes were found in the pathogenic range.<br /><br />The study also discusses the limitations of other genetic testing methods such as exome sequencing (ES) and the advantages of GS, which provides coverage of both coding and non-coding regions. In some cases, patients with inconclusive ES results were able to receive clinically relevant diagnoses through GS.<br /><br />Overall, the study emphasizes the clinical utility of GS in identifying variants that may have been missed by other testing methods. The researchers recommend GS as a comprehensive test for identifying single nucleotide variants (SNVs) and copy number variants (CNVs) and stress the importance of detailed clinical information in the analysis of genomic data.
Asset Subtitle
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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