Validation of clinical‐grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly‐diagnosed multiple myeloma patients: A pilot study from the 100,000 Genomes Project
Abstract Multiple myeloma is characterized by chromosomal abnormalities and genetic variation, which may inform prognosis and guide treatment. This pilot study sought to examine the feasibility of incorporating Whole Genome Sequencing (WGS) alongside the routine laboratory evaluation of 14 patients...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-11-01
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| Series: | eJHaem |
| Online Access: | https://doi.org/10.1002/jha2.276 |
| _version_ | 1797740075285479424 |
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| author | Oliver C. Lomas Sarah Gooding Maite Cabes Helene Dreau Edward Wilson Paolo Polzella Genomics England Research Consortium Karthik Ramasamy Angela D. Hamblin |
| author_facet | Oliver C. Lomas Sarah Gooding Maite Cabes Helene Dreau Edward Wilson Paolo Polzella Genomics England Research Consortium Karthik Ramasamy Angela D. Hamblin |
| author_sort | Oliver C. Lomas |
| collection | DOAJ |
| description | Abstract Multiple myeloma is characterized by chromosomal abnormalities and genetic variation, which may inform prognosis and guide treatment. This pilot study sought to examine the feasibility of incorporating Whole Genome Sequencing (WGS) alongside the routine laboratory evaluation of 14 patients with newly diagnosed multiple myeloma who had enrolled in the 100,000 Genomes Project. In all 14 cases, WGS data could be obtained in a timely fashion within existing clinical frameworks in a tertiary hospital setting. The data not only replicated standard‐of‐care FISH analysis of chromosomal abnormalities but also provided further chromosomal and molecular genetic insights that may influence patient management. |
| first_indexed | 2024-03-12T14:07:18Z |
| format | Article |
| id | doaj.art-0907cfd5cbae46de90683fdc9405e99f |
| institution | Directory Open Access Journal |
| issn | 2688-6146 |
| language | English |
| last_indexed | 2024-03-12T14:07:18Z |
| publishDate | 2021-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | eJHaem |
| spelling | doaj.art-0907cfd5cbae46de90683fdc9405e99f2023-08-21T14:05:23ZengWileyeJHaem2688-61462021-11-012480981210.1002/jha2.276Validation of clinical‐grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly‐diagnosed multiple myeloma patients: A pilot study from the 100,000 Genomes ProjectOliver C. Lomas0Sarah Gooding1Maite Cabes2Helene Dreau3Edward Wilson4Paolo Polzella5Genomics England Research Consortium6Karthik Ramasamy7Angela D. Hamblin8Department of ClinicalHaematology John Radcliffe and Churchill Hospitals Oxford University Hospitals NHS Trust Oxford UKDepartment of ClinicalHaematology John Radcliffe and Churchill Hospitals Oxford University Hospitals NHS Trust Oxford UKDepartment of ClinicalHaematology John Radcliffe and Churchill Hospitals Oxford University Hospitals NHS Trust Oxford UKDepartment of ClinicalHaematology John Radcliffe and Churchill Hospitals Oxford University Hospitals NHS Trust Oxford UKDepartment of ClinicalHaematology John Radcliffe and Churchill Hospitals Oxford University Hospitals NHS Trust Oxford UKDepartment of ClinicalHaematology John Radcliffe and Churchill Hospitals Oxford University Hospitals NHS Trust Oxford UKGenomics England London UKDepartment of ClinicalHaematology John Radcliffe and Churchill Hospitals Oxford University Hospitals NHS Trust Oxford UKDepartment of ClinicalHaematology John Radcliffe and Churchill Hospitals Oxford University Hospitals NHS Trust Oxford UKAbstract Multiple myeloma is characterized by chromosomal abnormalities and genetic variation, which may inform prognosis and guide treatment. This pilot study sought to examine the feasibility of incorporating Whole Genome Sequencing (WGS) alongside the routine laboratory evaluation of 14 patients with newly diagnosed multiple myeloma who had enrolled in the 100,000 Genomes Project. In all 14 cases, WGS data could be obtained in a timely fashion within existing clinical frameworks in a tertiary hospital setting. The data not only replicated standard‐of‐care FISH analysis of chromosomal abnormalities but also provided further chromosomal and molecular genetic insights that may influence patient management.https://doi.org/10.1002/jha2.276 |
| spellingShingle | Oliver C. Lomas Sarah Gooding Maite Cabes Helene Dreau Edward Wilson Paolo Polzella Genomics England Research Consortium Karthik Ramasamy Angela D. Hamblin Validation of clinical‐grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly‐diagnosed multiple myeloma patients: A pilot study from the 100,000 Genomes Project eJHaem |
| title | Validation of clinical‐grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly‐diagnosed multiple myeloma patients: A pilot study from the 100,000 Genomes Project |
| title_full | Validation of clinical‐grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly‐diagnosed multiple myeloma patients: A pilot study from the 100,000 Genomes Project |
| title_fullStr | Validation of clinical‐grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly‐diagnosed multiple myeloma patients: A pilot study from the 100,000 Genomes Project |
| title_full_unstemmed | Validation of clinical‐grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly‐diagnosed multiple myeloma patients: A pilot study from the 100,000 Genomes Project |
| title_short | Validation of clinical‐grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly‐diagnosed multiple myeloma patients: A pilot study from the 100,000 Genomes Project |
| title_sort | validation of clinical grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly diagnosed multiple myeloma patients a pilot study from the 100 000 genomes project |
| url | https://doi.org/10.1002/jha2.276 |
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