Clinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLL
The 100 000 Genome Project aims to develop a diagnostics platform by introducing whole genome sequencing (WGS) into clinical practice. Samples from patients with chronic lymphocytic leukaemia were subjected to WGS. WGS detection of single nucleotide variants and insertion/deletions were validated by...
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| Materialtyp: | Conference item |
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Wiley
2018
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| _version_ | 1826284452205035520 |
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| author | Klintman, J Barmpouti, K Knight, S Robbe, P Dreau, H Clifford, R Ridout, K Burns, A Timbs, A Bruce, D Antoniou, P Sosinsky, A Becq, J Bentley, D Hillmen, P Taylor, J Caulfield, M Schuh, A |
| author_facet | Klintman, J Barmpouti, K Knight, S Robbe, P Dreau, H Clifford, R Ridout, K Burns, A Timbs, A Bruce, D Antoniou, P Sosinsky, A Becq, J Bentley, D Hillmen, P Taylor, J Caulfield, M Schuh, A |
| author_sort | Klintman, J |
| collection | OXFORD |
| description | The 100 000 Genome Project aims to develop a diagnostics platform by introducing whole genome sequencing (WGS) into clinical practice. Samples from patients with chronic lymphocytic leukaemia were subjected to WGS. WGS detection of single nucleotide variants and insertion/deletions were validated by targeted next generation sequencing showing high concordance (96·3%), also for detection of sub-clonal variants and low-frequency TP53 variants. Copy number alteration detection was verified by fluorescent in situ hybridisation and genome-wide single nucleotide polymorphism array (concordances of 86·7% and 92·9%, respectively), confirming adequate sensitivity by WGS. Our results confirm that WGS can provide comprehensive genomic characterisation for clinical trials, drug discovery and, ultimately, precision medicine. |
| first_indexed | 2024-03-07T01:14:02Z |
| format | Conference item |
| id | oxford-uuid:8e0a30ea-302a-4d4f-8aad-8e0da8e9d1b0 |
| institution | University of Oxford |
| last_indexed | 2024-03-07T01:14:02Z |
| publishDate | 2018 |
| publisher | Wiley |
| record_format | dspace |
| spelling | oxford-uuid:8e0a30ea-302a-4d4f-8aad-8e0da8e9d1b02022-03-26T22:55:00ZClinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLLConference itemhttp://purl.org/coar/resource_type/c_5794uuid:8e0a30ea-302a-4d4f-8aad-8e0da8e9d1b0Symplectic Elements at OxfordWiley2018Klintman, JBarmpouti, KKnight, SRobbe, PDreau, HClifford, RRidout, KBurns, ATimbs, ABruce, DAntoniou, PSosinsky, ABecq, JBentley, DHillmen, PTaylor, JCaulfield, MSchuh, AThe 100 000 Genome Project aims to develop a diagnostics platform by introducing whole genome sequencing (WGS) into clinical practice. Samples from patients with chronic lymphocytic leukaemia were subjected to WGS. WGS detection of single nucleotide variants and insertion/deletions were validated by targeted next generation sequencing showing high concordance (96·3%), also for detection of sub-clonal variants and low-frequency TP53 variants. Copy number alteration detection was verified by fluorescent in situ hybridisation and genome-wide single nucleotide polymorphism array (concordances of 86·7% and 92·9%, respectively), confirming adequate sensitivity by WGS. Our results confirm that WGS can provide comprehensive genomic characterisation for clinical trials, drug discovery and, ultimately, precision medicine. |
| spellingShingle | Klintman, J Barmpouti, K Knight, S Robbe, P Dreau, H Clifford, R Ridout, K Burns, A Timbs, A Bruce, D Antoniou, P Sosinsky, A Becq, J Bentley, D Hillmen, P Taylor, J Caulfield, M Schuh, A Clinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLL |
| title | Clinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLL |
| title_full | Clinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLL |
| title_fullStr | Clinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLL |
| title_full_unstemmed | Clinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLL |
| title_short | Clinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLL |
| title_sort | clinical grade validation of whole genome sequencing reveals robust detection of low frequency variants and copy number alterations in cll |
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