Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases

Iqbal, M. Anwar; Broeckel, Ulrich; Levy, Brynn; Skinner, Steven A.; Sahajpal, Nikhil; Rodriguez, Vanessa; Stence, Aaron A.; Awayda, Kamel; Scharer, Gunter; Skinner, Cindy; Stevenson, Roger E.; Bossler, Aaron; Nagy, Péter L.; Kolhe, Ravindra

doi:10.1016/j.jmoldx.2022.12.005

Cited by 25 publications

(25 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…OGM is an emerging next‐generation technology that allows comprehensive analyses of the genome (Mantere et al, 2021). In some cases, as a single assay, OGM can allow testing laboratories the ability to provide a diagnostic result in a cost‐ and time‐efficient manner (Iqbal et al, 2023). Techniques such as MLPA or optical genome mapping with the addition of chromosomal microarray analysis, such as in our case, should be considered to improve detection of disease‐causing variants in affected individuals.…”

Section: Discussionmentioning

confidence: 99%

A novel de novo intragenic duplication in FBN1 associated with early‐onset Marfan syndrome in a 16‐month‐old: A case report and review of the literature

Piscopo,

Warner,

Nagy

et al. 2023

American J of Med Genetics Pt A

Self Cite

View full text Add to dashboard Cite

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder due to pathogenic variants in Fibrillin‐1 (FBN1) affecting nearly one in every 10,000 individuals. We report a 16‐month‐old female with early‐onset MFS heterozygous for an 11.2 kb de novo duplication within the FBN1 gene. Tandem location of the duplication was further confirmed by optical genome mapping in addition to genetic sequencing and chromosomal microarray. This is the third reported case of a large multi‐exon duplication in FBN1, and the only one confirmed to be in tandem. As the vast majority of pathogenic variants associated with MFS are point mutations, this expands the landscape of known FBN1 pathogenic variants and supports consistent use of genetic testing strategies that can detect large, indel‐type variants.

show abstract

Section: Discussionmentioning

confidence: 99%

A novel de novo intragenic duplication in FBN1 associated with early‐onset Marfan syndrome in a 16‐month‐old: A case report and review of the literature

Piscopo,

Warner,

Nagy

et al. 2023

American J of Med Genetics Pt A

Self Cite

View full text Add to dashboard Cite

show abstract

“…exchanges with other sites can be performed and can also serve as alternate proficiency testing. 22 Please note that some variability may be seen in small SV calls, especially near the limit of detection, as in some runs, they may meet the threshold for detection and in others not. However, larger SVs and those with higher variant allele fraction (VAF)/molecule counts should be consistently detected, excluding artefactual alignments that occur from time to time.…”

Section: Clinical Utilitymentioning

confidence: 99%

“…In laboratories with multiple instruments samples can be run parallel (inter‐instrument reproducibility) to demonstrate the reproducibility of OGM across different instruments (also to validate new equipment). For sites with only one instrument, sample exchanges with other sites can be performed and can also serve as alternate proficiency testing 22 . Please note that some variability may be seen in small SV calls, especially near the limit of detection, as in some runs, they may meet the threshold for detection and in others not.…”

Section: Validationmentioning

confidence: 99%

A framework for the clinical implementation of optical genome mapping in hematologic malignancies

Levy,

Kanagal‐Shamanna,

Sahajpal

et al. 2024

American J Hematol

Self Cite

View full text Add to dashboard Cite

Optical Genome Mapping (OGM) is rapidly emerging as an exciting cytogenomic technology both for research and clinical purposes. In the last 2 years alone, multiple studies have demonstrated that OGM not only matches the diagnostic scope of conventional standard of care cytogenomic clinical testing but it also adds significant new information in certain cases. Since OGM consolidates the diagnostic benefits of multiple costly and laborious tests (e.g., karyotyping, fluorescence in situ hybridization, and chromosomal microarrays) in a single cost‐effective assay, many clinical laboratories have started to consider utilizing OGM. In 2021, an international working group of early adopters of OGM who are experienced with routine clinical cytogenomic testing in patients with hematological neoplasms formed a consortium (International Consortium for OGM in Hematologic Malignancies, henceforth “the Consortium”) to create a consensus framework for implementation of OGM in a clinical setting. The focus of the Consortium is to provide guidance for laboratories implementing OGM in three specific areas: validation, quality control and analysis and interpretation of variants. Since OGM is a complex technology with many variables, we felt that by consolidating our collective experience, we could provide a practical and useful tool for uniform implementation of OGM in hematologic malignancies with the ultimate goal of achieving globally accepted standards.

show abstract

“…3,4 A growing number of studies have recently demonstrated the efficiency and superiority of OGM in various clinical settings, including both prenatal and postnatal congenital conditions, as well as various hematological and other malignancies. [5][6][7] Here, we explore the value of OGM in identifying cryptic BCRs using a case series from our clinical practice. This study was approved by the ethics committee of the Nanjing Drum Tower Hospital affiliated with Nanjing University Medical School (no.…”

mentioning

confidence: 99%

“…Optical genome mapping (OGM), an emerging technology from Bionano Genomics, has a high resolution for detecting nearly all types of genomic SVs and has been recognized as a revolution in next-generation cytogenomic analysis 3,4 . A growing number of studies have recently demonstrated the efficiency and superiority of OGM in various clinical settings, including both prenatal and postnatal congenital conditions, as well as various hematological and other malignancies 5–7 . Here, we explore the value of OGM in identifying cryptic BCRs using a case series from our clinical practice.…”

mentioning

confidence: 99%

Optical Genome Mapping for Cryptic Chromosomal Rearrangements Identification in Clinical Practice

Zhou,

Duan,

et al. 2024

Maternal Fetal Med

View full text Add to dashboard Cite

Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases

Cited by 25 publications

References 34 publications

A novel de novo intragenic duplication in FBN1 associated with early‐onset Marfan syndrome in a 16‐month‐old: A case report and review of the literature

A novel de novo intragenic duplication in FBN1 associated with early‐onset Marfan syndrome in a 16‐month‐old: A case report and review of the literature

A framework for the clinical implementation of optical genome mapping in hematologic malignancies

Optical Genome Mapping for Cryptic Chromosomal Rearrangements Identification in Clinical Practice

Contact Info

Product

Resources

About