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Nature Communications|January 18, 2024
Clinical application of tumour-in-normal contamination assessment from whole genome sequencingJonathan Mitchell, Salvatore Milite, Jack Bartram, et al.Genome Biology|January 31, 2024
Computational validation of clonal and subclonal copy number alterations from bulk tumor sequencing using CNAqcAlice Antonello, Riccardo Bergamin, Nicola Calonaci, et al.The Journal of Molecular Diagnostics : JMD|February 10, 2016
Next-Generation Sequencing-Assisted DNA-Based Digital PCR for a Personalized Approach to the Detection and Quantification of Residual Disease in Chronic Myeloid Leukemia PatientsMary Alikian, Peter Ellery, Martin Forbes, et al.The Journal of Pathology. Clinical Research|June 24, 2020
Sarcoma and the 100,000 Genomes Project: our experience and changes to practiceSophie C Prendergast, Anna-Christina Strobl, William Cross, et al.British Journal of Cancer|July 12, 2024
Introduction and impact of routine whole genome sequencing in the diagnosis and management of sarcomaJames A Watkins, Jamie Trotman, John A Tadross, et al.British Journal of Haematology|May 30, 2018
Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLLJenny Klintman, Katerina Barmpouti, Samantha J L Knight, et al.Plos One|June 30, 2015
Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic HypogonadismSuzanne I M Alsters, Anthony P Goldstone, Jessica L Buxton, et al.Cell|January 15, 2025
Ongoing chromothripsis underpins osteosarcoma genome complexity and clonal evolutionJose Espejo Valle-Inclan, Solange De Noon, Katherine Trevers, et al.Nature Methods|May 28, 2025
SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencingHillary Elrick, Carolin M Sauer, Jose Espejo Valle-Inclan, et al.Nature Communications|October 27, 2024
Genomic landscape of adult testicular germ cell tumours in the 100,000 Genomes ProjectMáire Ní Leathlobhair, Anna Frangou, Ben Kinnersley, et al.Pageof 3