Results 81 to 90 of about 122,453 (313)

CEQer: a graphical tool for copy number and allelic imbalance detection from whole-exome sequencing data. [PDF]

open access: yesPLoS ONE, 2013
Copy number alterations (CNA) are common events occurring in leukaemias and solid tumors. Comparative Genome Hybridization (CGH) is actually the gold standard technique to analyze CNAs; however, CGH analysis requires dedicated instruments and is able to ...
Rocco Piazza   +10 more
doaj   +1 more source

Combination Immunotherapy as a Promising Strategy to Overcome Immunotherapy Resistance: From Emergence to Next‐Generation Approaches

open access: yesAdvanced Science, EarlyView.
This review examines emerging combination immunotherapy strategies tailored to distinct tumor microenvironments and highlights next‐generation biomarkers that guide response prediction and treatment personalization. It integrates lessons from unsuccessful trials, addresses toxicity challenges, and outlines approaches for early biomarker discovery and ...
Asmita Pandey   +6 more
wiley   +1 more source

Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome

open access: yesNature Communications, 2018
Clinical oncology is rapidly adopting next-generation sequencing technology for nucleotide variant and indel detection. Here the authors present a three-platform approach (whole-genome, whole-exome, and whole-transcriptome) in pediatric patients for the ...
Michael Rusch   +32 more
doaj   +1 more source

Sensitivity to sequencing depth in single-cell cancer genomics

open access: yesGenome Medicine, 2018
Background Querying cancer genomes at single-cell resolution is expected to provide a powerful framework to understand in detail the dynamics of cancer evolution.
João M. Alves, David Posada
doaj   +1 more source

The driver landscape of sporadic chordoma. [PDF]

open access: yes, 2017
Chordoma is a malignant, often incurable bone tumour showing notochordal differentiation. Here, we defined the somatic driver landscape of 104 cases of sporadic chordoma. We reveal somatic duplications of the notochordal transcription factor brachyury (T)
Alexandrov, Ludmil B   +31 more
core   +2 more sources

G3BP1 Succinylation at K413 is Critical for Cardiac Function by Modulating PI3K‐AKT‐mTOR Signal Axis

open access: yesAdvanced Science, EarlyView.
Schematic illustrating the impact of G3BP1 succinylation at K413 on cardiac function. In the healthy human heart, G3BP1 succinylation maintains homeostatic mTOR signaling. In patients with dilated cardiomyopathy (DCM) and heart failure (HF), G3BP1 de‐succinylation induces RagA expression and disrupts the binding of the TSC1/2 complex, leading to the ...
Yuan Zhang   +9 more
wiley   +1 more source

Deep whole genome sequencing identifies recurrent genomic alterations in commonly used breast cancer cell lines and patient-derived xenograft models

open access: yesBreast Cancer Research, 2022
Background Breast cancer cell lines (BCCLs) and patient-derived xenografts (PDXs) are the most frequently used models in breast cancer research. Despite their widespread usage, genome sequencing of these models is incomplete, with previous studies only ...
Niantao Deng   +6 more
doaj   +1 more source

Resistance-promoting effects of ependymoma treatment revealed through genomic analysis of multiple recurrences in a single patient [PDF]

open access: yes, 2018
As in other brain tumors, multiple recurrences after complete resection and irradiation of supratentorial ependymoma are common and frequently result in patient death.
Dahiya, Sonika   +7 more
core   +3 more sources

DNA Replication Errors Drive Genome‐Wide Small Inverted Triplication Dynamics

open access: yesAdvanced Science, EarlyView.
This study provides insight into the dynamic equilibrium mechanism of a novel structural variant, small inverted triplication (SIT), which is generated by misalignment of the 3’ flap generated under DNA replication stress with palindromic sequence. Alternatively, the end sequence may fold back on itself to form an inverted fragment.
Yi Lei   +12 more
wiley   +1 more source

BALSA: integrated secondary analysis for whole-genome and whole-exome sequencing, accelerated by GPU [PDF]

open access: yesPeerJ, 2014
This paper reports an integrated solution, called BALSA, for the secondary analysis of next generation sequencing data; it exploits the computational power of GPU and an intricate memory management to give a fast and accurate analysis.
Ruibang Luo   +6 more
doaj   +2 more sources

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