Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing

Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing

Next-generation sequencing (NGS) efforts have established catalogs of mutations relevant to cancer development. However, the clinical utility of this information remains largely unexplored. Here, we present the results of the first eight patients recruited into a clinical whole-genome sequencing (WG...

Ausführliche Beschreibung

Bibliographische Detailangaben
Hauptverfasser:	Schuh, A, Dreau, H, Knight, SJL, Ridout, K, Mizani, T, Vavoulis, D, Colling, R, Antoniou, P, Kvikstad, EM, Pentony, MM, Hamblin, A, Protheroe, A, Parton, M, Shah, KA, Zsolt, O, Athanasou, N, Hassan, B, Flanagan, AM, Ahmed, A, Winter, S, Harris, A, Tomlinson, I, Popitsch, N, Church, DN, Taylor, JC
Format:	Journal article
Veröffentlicht:	Cold Spring Harbor Laboratory Press 2018

Ähnliche Einträge

Utility of whole-genome sequencing in the clinical diagnostic of rare inherited anaemias
von: C Camps, et al.
Veröffentlicht: (2018)

The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom
von: Schwarze, K, et al.
Veröffentlicht: (2019)

Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer
von: Purshouse, K, et al.
Veröffentlicht: (2017)

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.
von: Robbe, P, et al.
Veröffentlicht: (2018)

Clinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLL
von: Klintman, J, et al.
Veröffentlicht: (2018)

Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV(mut) and IgHV(unmut) subgroups
von: Burns, A, et al.
Veröffentlicht: (2017)

Multimodal cell-free DNA whole-genome TAPS is sensitive and reveals specific cancer signals
von: Vavoulis, DV, et al.
Veröffentlicht: (2025)

Targeted next-generation sequencing of plasma DNA from cancer patients: factors influencing consistency with tumour DNA and prospective investigation of its utility for diagnosis
von: Kaisaki, P, et al.
Veröffentlicht: (2016)

Hierarchical probabilistic models for multiple gene/variant associations based on next-generation sequencing data
von: Vavoulis, D, et al.
Veröffentlicht: (2017)

ReliableGenome : annotation of genomic regions with high/low variant calling concordance
von: Popitsch, N, et al.
Veröffentlicht: (2016)

GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data
von: Giacopuzzi, E, et al.
Veröffentlicht: (2022)

Characterisation of the changing genomic landscape of metastatic melanoma using cell free DNA
von: Cutts, A, et al.
Veröffentlicht: (2017)

Quantitative Whole Genome Analysis of Sequential Samples From Patients with B-CLL Identifies Novel Recurrent Copy Number Alterations Involving Critical B-Cell Transcription Factors
von: Timbs, A, et al.
Veröffentlicht: (2010)

Quantitative Whole Genome Analysis of Sequential Samples From Patients with B CLL Identifies Novel Recurrent Copy Number Alterations Involving Critical B Cell Transcription Factors
von: Timbs, A, et al.
Veröffentlicht: (2010)

Whole-genome methylation analysis of benign and malignant colorectal tumours
von: Beggs, A, et al.
Veröffentlicht: (2013)

Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults.
von: Gallienne, A, et al.
Veröffentlicht: (2012)

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
von: Pagnamenta, AT, et al.
Veröffentlicht: (2023)

Identification of circulating genomic and metabolic biomarkers in intrahepatic cholangiocarcinoma
von: Winter, H, et al.
Veröffentlicht: (2019)

Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.
von: Hamblin, A, et al.
Veröffentlicht: (2017)

Comparison of methodologies for the detection of BRAF mutations in bone marrow trephine specimens
von: Cardus, B, et al.
Veröffentlicht: (2019)

Evaluation of relative sensitivities and specificities of BRAF mutation detection methodologies, using the paradigm of hairy cell leukaemia
von: Cardus, B, et al.
Veröffentlicht: (2016)

Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing.
von: Haywood, A, et al.
Veröffentlicht: (2010)

A method for non-invasive prenatal diagnosis of monogenic autosomal recessive disorders
von: Cutts, A, et al.
Veröffentlicht: (2019)

The effects of cold ischaemia on tumour morphology and DNA quality for whole genome sequencing: A systematic comparative study of a series of renal tumours in a single institution
von: Browning, L, et al.
Veröffentlicht: (2017)

Whole-genome methylation analysis of benign and malignant colorectal tumours.
von: Beggs, A, et al.
Veröffentlicht: (2013)

Nine Novel Mutations in the Erythroid Transcription Factor KLF1 Gene Associated with Increased Fetal Hemoglobin Levels in Adults
von: Gallienne, A, et al.
Veröffentlicht: (2011)

Great whole grain breads/
von: 380820 Ojakangas, Beatrice A., et al.
Veröffentlicht: (1993)

Whole-exome sequencing in del(5q) myelodysplastic syndromes in transformation to acute myeloid leukemia
von: Pellagatti, A, et al.
Veröffentlicht: (2014)

Whole-exome sequencing in del(5q) myelodysplastic syndromes in transformation to acute myeloid leukemia.
von: Pellagatti, A, et al.
Veröffentlicht: (2014)

Educating second language children : the whole child, the whole curriculum, the whole community /
von: Genesee, Fred
Veröffentlicht: (1994)

Targeted Gene Profiling Identifies Differential Genetic Make-up Depending On Chronic Lymphocytic Leukaemia Subtype
von: Burns, A, et al.
Veröffentlicht: (2012)

Targeted Gene Profiling Identifies Differential Genetic Make-up Depending On Chronic Lymphocytic Leukaemia Subtype
von: Burns, A, et al.
Veröffentlicht: (2012)

Whole brain emulation: a roadmap
von: Sandberg, A, et al.
Veröffentlicht: (2008)

Whole genome sequencing of Mycobacterium tuberculosis
von: Cabibbe, A, et al.
Veröffentlicht: (2018)

Strong heterogeneity in mutation rate causes misleading hallmarks of natural selection on indel mutations in the human genome
von: Kvikstad, E, et al.
Veröffentlicht: (2013)

Enabling multiplexed testing of pooled donor cells through whole-genome sequencing
von: Chan, Yingleong, et al.
Veröffentlicht: (2018)

Diagnosing Burkitt lymphoma in sub-saharan Africa by sequencing of circulating tumour DNA: a comparative microcosting study
von: Morrell, L, et al.
Veröffentlicht: (2025)

Modelling the steaming of whole wheat grains
von: Stapley, A, et al.
Veröffentlicht: (1999)

Whole grains
von: Lang, R, et al.
Veröffentlicht: (2010)

Not the whole truth /
von: 340237 Kayani, Malik Rustam
Veröffentlicht: (1968)