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2023 ACMG Annual Clinical Genetics Meeting Digital ...
The contribution of mosaicism to genetic diseases ...
The contribution of mosaicism to genetic diseases and presumed
de novo
mutations
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Pdf Summary
The study aimed to determine the contribution of mosaicism to genetic diseases and de novo mutations in a rare disease network and the electronic health records (EHR) of Vanderbilt University Medical Center (VUMC). The researchers analyzed data from the Undiagnosed Diseases Network (UDN), which consisted of teams of researchers and clinicians from 12 sites across the United States. They also examined the genetic testing results of individuals in the VUMC EHR.<br /><br />In the UDN, the researchers found that 4.51% of diagnosed patients had mosaic genetic disease (MGD), and 2.86% of parents of those with de novo variants (DNV) exhibited parental mosaicism (PM). In the VUMC EHR, they found that 6.03% and 2.99% of diagnosed patients had MGD detected by chromosomal microarray and exome/genome sequencing, respectively. They also observed that 2.34% of individuals with presumed pathogenic DNV had a parent with PM for the variant. Additionally, mosaicism was detected in 4.49% of genetic tests performed.<br /><br />The researchers noted that MGD is highly heterogeneous and contributes significantly to genetic diseases. They emphasized the need for further research to improve the diagnosis of MGD and investigate how PM contributes to the risk of DNV.<br /><br />The study also provided details about the methods used to analyze the UDN and VUMC EHR data. They performed electronic searches to identify cases of MGD and analyzed the genetic testing results recorded in the EHR. They found that genome sequencing and exome sequencing were the most effective methods for diagnosing MGD.<br /><br />In conclusion, this study illustrated the prevalence and significance of mosaicism in genetic diseases. The researchers suggested that diagnosing and understanding MGD can improve genetic care and provide accurate recurrence risk counseling for patients. They also emphasized the importance of standardized guidelines for diagnosing MGD in both the laboratory and clinic settings.
Asset Subtitle
Presenting Author - Rory J. Tinker, MD; Co-Author - Lisa Bastarache, MA; Co-Author - Kimberly Ezell, FNP-BC; Co-Author - Shilpa Nadimpalli Kobren, PHD; Co-Author - Cecilia Esteves, MPH; Co-Author - Rizwan Hamid, MD, PhD, FACMG; Co-Author - Joy Cogan, PHD; Co-Author - David Rinker, PHD; Co-Author - Souhrid Mukharjee, PHD; Co-Author - John A Phillips, Dr, MD;
Meta Tag
Bioinformatics
Cancer Syndromes
Chromosomal Abnormalities
Chromosome Structure/Function
Congenital Anomaly
Counseling
Delineation of Diseases
Dysmorphology
Exome sequencing
FISH
Genetic Diversity
Genome sequencing
Genomic Methodologies
Genotype-Phenotype Correlations
Inheritance Patterns
Maternal Genetic Disease
Mitochondria
Population Genetics
Uniparental Disomy
Co-Author
Lisa Bastarache, MA
Co-Author
Kimberly Ezell, FNP-BC
Co-Author
Shilpa Nadimpalli Kobren, PHD
Co-Author
Cecilia Esteves, MPH
Co-Author
Rizwan Hamid, MD, PhD, FACMG
Co-Author
Joy Cogan, PHD
Co-Author
David Rinker, PHD
Co-Author
Souhrid Mukharjee, PHD
Co-Author
John A Phillips, Dr, MD
Presenting Author
Rory J. Tinker, MD
Keywords
mosaicism
genetic diseases
de novo mutations
rare disease network
electronic health records
Vanderbilt University Medical Center
Undiagnosed Diseases Network
chromosomal microarray
exome/genome sequencing
parental mosaicism
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