Precision Diagnostics in Myeloid Malignancies : Development and Validation of a National Capture-Based Gene Panel

↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Search: onr:"swepub:oai:lup.lub.lu.se:b83cdc66-cb32-4263-a07c-385677286868" > Precision Diagnosti...

1 of 1
Previous record
Next record
To hitlist

Precision Diagnostics in Myeloid Malignancies : Development and Validation of a National Capture-Based Gene Panel

Orsmark-Pietras, Christina (author): Lund University,Lunds universitet,Translationella genomiska och funktionella studier av leukemi,Forskargrupper vid Lunds universitet,Translational Genomic and Functional Studies of Leukemia,Lund University Research Groups,Region Skåne

Lyander, Anna (author): KTH Royal Institute of Technology,Karolinska Institute

Ladenvall, Claes (author): Uppsala University

Hallström, Björn (author): Region Skåne

Staffas, Anna (author): University of Gothenburg,Sahlgrenska University Hospital

Awier, Hero (author): Karolinska Institute,Karolinska University Hospital

Krstic, Aleksandra (author): Karolinska Institute,Karolinska University Hospital

Baliakas, Panagiotis (author): Uppsala University,Uppsala University Hospital

Barbany, Gisela (author): Karolinska Institute,Karolinska University Hospital

Håkansson, Cecilia Brunhoff (author): Region Skåne

Gellerbring, Anna (author): Karolinska Institute

Hagström, Anna (author): Lund University,Lunds universitet,MLL-rearrangerad leukemi hos spädbarn,Forskargrupper vid Lunds universitet,The pathogenetic mechanisms behind MLL-rearranged acute leukemia in infancy,Lund University Research Groups

Hellström-Lindberg, Eva (author): Karolinska University Hospital

Juliusson, Gunnar (author): Skåne University Hospital

Lazarevic, Vladimir (author): Skåne University Hospital

Munters, Arielle (author): Uppsala University

Pandzic, Tatjana (author): Uppsala University,Uppsala University Hospital

Wadelius, Mia (author): Uppsala University

Ås, Joel (author): Uppsala University

Fogelstrand, Linda (author): University of Gothenburg,Sahlgrenska University Hospital

Wirta, Valtteri (author): KTH Royal Institute of Technology,Karolinska Institute,Karolinska University Hospital

Rosenquist, Richard (author): Karolinska Institute,Karolinska University Hospital

Cavelier, Lucia (author): Uppsala University,Karolinska Institute,Karolinska University Hospital,Uppsala University Hospital

Fioretos, Thoas (author): Lund University,Lunds universitet,Translationella genomiska och funktionella studier av leukemi,Forskargrupper vid Lunds universitet,LTH profilområde: Teknik för hälsa,LTH profilområden,Lunds Tekniska Högskola,Translational Genomic and Functional Studies of Leukemia,Lund University Research Groups,LTH Profile Area: Engineering Health,LTH Profile areas,Faculty of Engineering, LTH,Region Skåne

show less...

(creator_code:org_t)

2024
2024
English.
In: Genes Chromosomes and Cancer. - 1045-2257. ; 63:7

Related links:: http://dx.doi.org/10... (free); show more...; https://lup.lub.lu.s...; https://doi.org/10.1...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

Gene panel sequencing has become a common diagnostic tool for detecting somatically acquired mutations in myeloid neoplasms. However, many panels have restricted content, provide insufficient sensitivity levels, or lack clinically validated workflows. We here describe the development and validation of the Genomic Medicine Sweden myeloid gene panel (GMS-MGP), a capture-based 191 gene panel including mandatory genes in contemporary guidelines as well as emerging candidates. The GMS-MGP displayed uniform coverage across all targets, including recognized difficult GC-rich areas. The validation of 117 previously described somatic variants showed a 100% concordance with a limit-of-detection of a 0.5% variant allele frequency (VAF), achieved by utilizing error correction and filtering against a panel-of-normals. A national interlaboratory comparison investigating 56 somatic variants demonstrated highly concordant results in both detection rate and reported VAFs. In addition, prospective analysis of 323 patients analyzed with the GMS-MGP as part of standard-of-care identified clinically significant genes as well as recurrent mutations in less well-studied genes. In conclusion, the GMS-MGP workflow supports sensitive detection of all clinically relevant genes, facilitates novel findings, and is, based on the capture-based design, easy to update once new guidelines become available. The GMS-MGP provides an important step toward nationally harmonized precision diagnostics of myeloid malignancies.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

Keyword

capture-based gene panel
interlaboratory comparison
myeloid malignancies
paired tumor-normal analysis
precision diagnostics
somatic variant detection

Publication and Content Type

art (subject category)
ref (subject category)

Find in a library

Genes Chromosomes and Cancer (Search for host publication in LIBRIS)

To the university's database

1 of 1
Previous record
Next record
To hitlist

Find more in SwePub

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Cancer and Oncol ...

Articles in the publication: Genes Chromosome ...

By the university: Lund University

Search outside SwePub

Extend your search to:: Google; Google Book Search; Google Scholar

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

LIBRIS.kb.se