Diagnosing Burkitt Lymphoma in Sub-Saharan Africa by Sequencing of Circulating Tumour DNA: a Comparative Microcosting Study
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The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.
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The poor outcome in high molecular risk, hydroxycarbamide-resistant/intolerant ET is not ameliorated by ruxolitinib.
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Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL
Klintman J. et al, (2019), British Journal of Haematology
Glucophosphate isomerase deficiency identified by next-generation sequencing
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Validation of clinical-grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly-diagnosed myeloma patients : a pilot study from the 100,000 Genomes Project
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Longitudinal Mutational Analysis in Hydroxycarbamide-Resistant/Intolerant Essential Thrombocythemia Treated on the Majic-ET Study
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The Light Chain IgLV3-21 Defines a New Poor Prognostic Subgroup in Chronic Lymphocytic Leukemia: Results of a Multicenter Study.
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Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.
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Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
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Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL.
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Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.
Schuh A. et al, (2018), Cold Spring Harb Mol Case Stud, 4
Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups.
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Characterisation of the changing genomic landscape of metastatic melanoma using cell free DNA.
Cutts A. et al, (2017), NPJ Genom Med, 2
COMBINATION OF DEEP PHENOTYPING AND TARGETED NEXT GENERATION SEQUENCING AS A DIAGNOSTIC TOOL IN CHILDREN WITH SUSPECTED MDS
Louka E. et al, (2017), HAEMATOLOGICA, 102, 265 - 265
Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer.
Purshouse K. et al, (2017), Cold Spring Harb Mol Case Stud, 3
EARLY LESSONS FROM WHOLE-GENOME SEQUENCING IN THE CLINICAL DIAGNOSIS OF RARE INHERITED ANAEMIAS
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A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.
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