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Linked-read whole-g...
Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma
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- Pena-Perez, Lucia (författare)
- Karolinska Institutet,Karolinska Inst, Dept Lab Med, Stockholm, Sweden.;Karolinska Inst, Ctr Hematol & Regenerat Med, Stockholm, Sweden.
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- Frengen, Nicolai (författare)
- Karolinska Institutet,Karolinska Inst, Dept Lab Med, Stockholm, Sweden.;Karolinska Inst, Ctr Hematol & Regenerat Med, Stockholm, Sweden.
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- Hauenstein, Julia (författare)
- Karolinska Institutet,Karolinska Inst, Dept Lab Med, Stockholm, Sweden.;Karolinska Inst, Ctr Hematol & Regenerat Med, Stockholm, Sweden.
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- Gran, Charlotte (författare)
- Karolinska Institutet,Karolinska Inst, Ctr Hematol & Regenerat Med, Stockholm, Sweden.;Karolinska Inst, Dept Med, Stockholm, Sweden.
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- Gustafsson, Charlotte (författare)
- Karolinska Institutet,Karolinska Inst, Dept Lab Med, Stockholm, Sweden.;Karolinska Inst, Ctr Hematol & Regenerat Med, Stockholm, Sweden.
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- Eisfeldt, Jesper (författare)
- Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Inst, Sci Life Lab, Sci Pk, Stockholm, Sweden.
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- Kierczak, Marcin, 1981- (författare)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för medicinsk biokemi och mikrobiologi
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- Taborsak-Lines, Fanny (författare)
- Royal Inst Technol, Div Gene Technol, Stockholm, Sweden.
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- Olsen, Remi-Andre (författare)
- Stockholm Univ, Dept Biochem & Biophys, Sci Life Lab, Stockholm, Sweden.
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- Wallblom, Ann (författare)
- Karolinska Inst, Ctr Hematol & Regenerat Med, Stockholm, Sweden.;Karolinska Inst, Dept Med, Stockholm, Sweden.
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- Krstic, Aleksandra (författare)
- Karolinska Institutet,Karolinska Univ Hosp, Dept Clin Pathol & Cytol, Stockholm, Sweden.
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- Ewels, Philip (författare)
- Stockholm Univ, Dept Biochem & Biophys, Sci Life Lab, Stockholm, Sweden.
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- Lindstrand, Anna (författare)
- Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden.
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- Mansson, Robert (författare)
- Karolinska Institutet,Karolinska Inst, Dept Lab Med, Stockholm, Sweden.;Karolinska Inst, Ctr Hematol & Regenerat Med, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Hematol, Stockholm, Sweden.
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Karolinska Institutet Karolinska Inst, Dept Lab Med, Stockholm, Sweden;Karolinska Inst, Ctr Hematol & Regenerat Med, Stockholm, Sweden. (creator_code:org_t)
- American Society of Hematology, 2022
- 2022
- Engelska.
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Ingår i: Blood Advances. - : American Society of Hematology. - 2473-9529 .- 2473-9537. ; 6:17, s. 5009-5023
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- Multiple myeloma (MM) is an incurable and aggressive plasma cell malignancy characterized by a complex karyotype with multiple structural variants (SVs) and copy-number variations (CNVs). Linked-read whole-genome sequencing (lrWGS) allows for refined detection and reconstruction of SVs by providing long-range genetic information from standard short-read sequencing. This makes lrWGS an attractive solution for capturing the full genomic complexity of MM. Here we show that high-quality lrWGS data can be generated from low numbers of cells subjected to fluorescence-activated cell sorting (FACS) without DNA purification. Using this protocol, we analyzed MM cells after FACS from 37 patients with MM using lrWGS. We found high concordance between lrWGS and fluorescence in situ hybridization (FISH) for the detection of recurrent translocations and CNVs. Outside of the regions investigated by FISH, we identified > 150 additional SVs and CNVs across the cohort. Analysis of the lrWGS data allowed for resolution of the structure of diverse SVs affecting the MYC and t(11;14) loci, causing the duplication of genes and gene regulatory elements. In addition, we identified private SVs causing the dysregulation of genes recurrently involved in translocations with the IGH locus and show that these can alter the molecular classification of MM. Overall, we conclude that lrWGS allows for the detection of aberrations critical for MM prognostics and provides a feasible route for providing comprehensive genetics. Implementing lrWGS could provide more accurate clinical prognostics, facilitate genomic medicine initiatives, and greatly improve the stratification of patients included in clinical trials.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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- Av författaren/redakt...
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Pena-Perez, Luci ...
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Frengen, Nicolai
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Hauenstein, Juli ...
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Gran, Charlotte
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Gustafsson, Char ...
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Eisfeldt, Jesper
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visa fler...
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Kierczak, Marcin ...
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Taborsak-Lines, ...
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Olsen, Remi-Andr ...
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Wallblom, Ann
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Krstic, Aleksand ...
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Ewels, Philip
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Lindstrand, Anna
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Mansson, Robert
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- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Hematologi
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- NATURVETENSKAP
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NATURVETENSKAP
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och Biologi
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och Genetik
- Artiklar i publikationen
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Blood Advances
- Av lärosätet
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Uppsala universitet
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Karolinska Institutet