Detection of Constitutional Structural Variants by Optical Genome Mapping: A Multisite Study of Postnatal Samples

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

doi:10.1016/j.jmoldx.2023.12.003

Detection of Constitutional Structural Variants by Optical Genome Mapping: A Multisite Study of Postnatal Samples

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

Anatomic Pathology

Research output: Contribution to journal › Article › peer-review

Abstract

Optical genome mapping is a high-resolution technology that can detect all types of structural variations in the genome. This second phase of a multisite study compares the performance of optical genome mapping and current standard-of-care methods for diagnostic testing of individuals with constitutional disorders, including neurodevelopmental impairments and congenital anomalies. Among the 627 analyses in phase 2, 405 were of retrospective samples supplied by five diagnostic centers in the United States and 94 were prospective samples collected over 18 months by two diagnostic centers (June 2021 to October 2022). Additional samples represented a family cohort to determine inheritance (n = 119) and controls (n = 9). Full concordance of results between optical genome mapping and one or more standard-of-care diagnostic tests was 98.6% (618/627), with partial concordance in an additional 1.1% (7/627).

Original language	English (US)
Pages (from-to)	213-226
Number of pages	14
Journal	Journal of Molecular Diagnostics
Volume	26
Issue number	3
DOIs	https://doi.org/10.1016/j.jmoldx.2023.12.003
State	Published - Mar 2024

ASJC Scopus subject areas

Pathology and Forensic Medicine
Molecular Medicine

Access to Document

10.1016/j.jmoldx.2023.12.003

Cite this

Broeckel, U., Iqbal, M. A., Levy, B., Sahajpal, N., Nagy, P. L., Scharer, G., Rodriguez, V., Bossler, A., Stence, A., Skinner, C., Skinner, S. A., Kolhe, R., & Stevenson, R. (2024). Detection of Constitutional Structural Variants by Optical Genome Mapping: A Multisite Study of Postnatal Samples. Journal of Molecular Diagnostics, 26(3), 213-226. https://doi.org/10.1016/j.jmoldx.2023.12.003

Broeckel, U, Iqbal, MA, Levy, B, Sahajpal, N, Nagy, PL, Scharer, G, Rodriguez, V, Bossler, A, Stence, A, Skinner, C, Skinner, SA, Kolhe, R & Stevenson, R 2024, 'Detection of Constitutional Structural Variants by Optical Genome Mapping: A Multisite Study of Postnatal Samples', Journal of Molecular Diagnostics, vol. 26, no. 3, pp. 213-226. https://doi.org/10.1016/j.jmoldx.2023.12.003

@article{ace6cb2e85b84de0b7e95ddd94dc34c6,

title = "Detection of Constitutional Structural Variants by Optical Genome Mapping: A Multisite Study of Postnatal Samples",

abstract = "Optical genome mapping is a high-resolution technology that can detect all types of structural variations in the genome. This second phase of a multisite study compares the performance of optical genome mapping and current standard-of-care methods for diagnostic testing of individuals with constitutional disorders, including neurodevelopmental impairments and congenital anomalies. Among the 627 analyses in phase 2, 405 were of retrospective samples supplied by five diagnostic centers in the United States and 94 were prospective samples collected over 18 months by two diagnostic centers (June 2021 to October 2022). Additional samples represented a family cohort to determine inheritance (n = 119) and controls (n = 9). Full concordance of results between optical genome mapping and one or more standard-of-care diagnostic tests was 98.6% (618/627), with partial concordance in an additional 1.1% (7/627).",

author = "Ulrich Broeckel and Iqbal, {M. Anwar} and Brynn Levy and Nikhil Sahajpal and Nagy, {Peter L.} and Gunter Scharer and Vanessa Rodriguez and Aaron Bossler and Aaron Stence and Cindy Skinner and Skinner, {Steven A.} and Ravindra Kolhe and Roger Stevenson",

note = "Publisher Copyright: {\textcopyright} 2024 Association for Molecular Pathology and American Society for Investigative Pathology",

year = "2024",

month = mar,

doi = "10.1016/j.jmoldx.2023.12.003",

language = "English (US)",

volume = "26",

pages = "213--226",

journal = "Journal of Molecular Diagnostics",

issn = "1525-1578",

publisher = "Association of Molecular Pathology",

number = "3",

}

TY - JOUR

T1 - Detection of Constitutional Structural Variants by Optical Genome Mapping

T2 - A Multisite Study of Postnatal Samples

AU - Broeckel, Ulrich

AU - Iqbal, M. Anwar

AU - Levy, Brynn

AU - Sahajpal, Nikhil

AU - Nagy, Peter L.

AU - Scharer, Gunter

AU - Rodriguez, Vanessa

AU - Bossler, Aaron

AU - Stence, Aaron

AU - Skinner, Cindy

AU - Skinner, Steven A.

AU - Kolhe, Ravindra

AU - Stevenson, Roger

PY - 2024/3

Y1 - 2024/3

N2 - Optical genome mapping is a high-resolution technology that can detect all types of structural variations in the genome. This second phase of a multisite study compares the performance of optical genome mapping and current standard-of-care methods for diagnostic testing of individuals with constitutional disorders, including neurodevelopmental impairments and congenital anomalies. Among the 627 analyses in phase 2, 405 were of retrospective samples supplied by five diagnostic centers in the United States and 94 were prospective samples collected over 18 months by two diagnostic centers (June 2021 to October 2022). Additional samples represented a family cohort to determine inheritance (n = 119) and controls (n = 9). Full concordance of results between optical genome mapping and one or more standard-of-care diagnostic tests was 98.6% (618/627), with partial concordance in an additional 1.1% (7/627).

AB - Optical genome mapping is a high-resolution technology that can detect all types of structural variations in the genome. This second phase of a multisite study compares the performance of optical genome mapping and current standard-of-care methods for diagnostic testing of individuals with constitutional disorders, including neurodevelopmental impairments and congenital anomalies. Among the 627 analyses in phase 2, 405 were of retrospective samples supplied by five diagnostic centers in the United States and 94 were prospective samples collected over 18 months by two diagnostic centers (June 2021 to October 2022). Additional samples represented a family cohort to determine inheritance (n = 119) and controls (n = 9). Full concordance of results between optical genome mapping and one or more standard-of-care diagnostic tests was 98.6% (618/627), with partial concordance in an additional 1.1% (7/627).

UR - http://www.scopus.com/inward/record.url?scp=85185462108&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85185462108&partnerID=8YFLogxK

U2 - 10.1016/j.jmoldx.2023.12.003

DO - 10.1016/j.jmoldx.2023.12.003

M3 - Article

C2 - 38211722

AN - SCOPUS:85185462108

SN - 1525-1578

VL - 26

SP - 213

EP - 226

JO - Journal of Molecular Diagnostics

JF - Journal of Molecular Diagnostics

IS - 3

ER -

Detection of Constitutional Structural Variants by Optical Genome Mapping: A Multisite Study of Postnatal Samples

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this