The purpose of this research use only (RUO) study is to detect genomic structural variants (SVs) in human DNA by Optical Genome Mapping (OGM) using the Bionano Genomics Saphyr system. SVs are a type of genetic alternation that includes deletions, duplications, and both balanced and unbalanced rearrangements (ex: inversions or translocations), as well as specific repeat expansions and contractions. The results of OGM analysis will be compared to prior clinical genetic test results to determine how OGM compares to current standard of care (SOC) clinical test methods such as chromosomal microarray analysis (CMA), karyotyping, Southern blot analysis, polymerase chain reaction (PCR), fluorescence in situ hybridization (FISH), and/or next generation sequencing (NGS), etc.
Developmental Disability, Intellectual Disability, Autism Spectrum Disorder, Congenital Anomaly, Fragile X Syndrome, Facioscapulohumeral Muscular Dystrophy 1
The purpose of this research use only (RUO) study is to detect genomic structural variants (SVs) in human DNA by Optical Genome Mapping (OGM) using the Bionano Genomics Saphyr system. SVs are a type of genetic alternation that includes deletions, duplications, and both balanced and unbalanced rearrangements (ex: inversions or translocations), as well as specific repeat expansions and contractions. The results of OGM analysis will be compared to prior clinical genetic test results to determine how OGM compares to current standard of care (SOC) clinical test methods such as chromosomal microarray analysis (CMA), karyotyping, Southern blot analysis, polymerase chain reaction (PCR), fluorescence in situ hybridization (FISH), and/or next generation sequencing (NGS), etc.
Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort
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Praxis Genomics, Atlanta, Georgia, United States, 30328
Augusta University Research Institute, Augusta, Georgia, United States, 30912
University of Iowa Hospitals & Clinics, Molecular Pathology, Iowa City, Iowa, United States, 52242
Columbia University Irving Medical Center, New York, New York, United States, 10032
DNA Microarray CGH Laboratory, Department of Pathology, University of Rochester Medical Center, W. Henrietta, New York, United States, 14586
Greenwood Genetic Center, Greenwood, South Carolina, United States, 29646
Lineagen (A Bionano Genomics Company), Salt Lake City, Utah, United States, 84109
Medical College of Wisconsin, Milwaukee, Wisconsin, United States, 53226
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
For general information about clinical research, read Learn About Studies.
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Bionano Genomics,
Alka Chaubey, PhD, FACMG, PRINCIPAL_INVESTIGATOR, Bionano Genomics
2024-06-30