[HTML][HTML] Techniques of using circulating tumor DNA as a liquid biopsy component in cancer management

M Elazezy, SA Joosse - Computational and structural biotechnology journal, 2018 - Elsevier
Precision medicine in the clinical management of cancer may be achieved through the
diagnostic platform called “liquid biopsy”. This method utilizes the detection of biomarkers in …

A phase Ib trial of personalized neoantigen therapy plus anti-PD-1 in patients with advanced melanoma, non-small cell lung cancer, or bladder cancer

PA Ott, S Hu-Lieskovan, B Chmielowski, R Govindan… - Cell, 2020 - cell.com
Neoantigens arise from mutations in cancer cells and are important targets of T cell-
mediated anti-tumor immunity. Here, we report the first open-label, phase Ib clinical trial of a …

Review of current methods, applications, and data management for the bioinformatics analysis of whole exome sequencing

R Bao, L Huang, J Andrade, W Tan… - Cancer …, 2014 - journals.sagepub.com
The advent of next-generation sequencing technologies has greatly promoted advances in
the study of human diseases at the genomic, transcriptomic, and epigenetic levels. Exome …

Integrative analysis identifies four molecular and clinical subsets in uveal melanoma

AG Robertson, J Shih, C Yau, EA Gibb, J Oba… - Cancer cell, 2017 - cell.com
Comprehensive multiplatform analysis of 80 uveal melanomas (UM) identifies four
molecularly distinct, clinically relevant subtypes: two associated with poor-prognosis …

Personalized neoantigen vaccine NEO-PV-01 with chemotherapy and anti-PD-1 as first-line treatment for non-squamous non-small cell lung cancer

MM Awad, R Govindan, KN Balogh, DR Spigel… - Cancer Cell, 2022 - cell.com
Neoantigens arising from mutations in tumor DNA provide targets for immune-based
therapy. Here, we report the clinical and immune data from a Phase Ib clinical trial of a …

The integrated genomic landscape of thymic epithelial tumors

M Radovich, CR Pickering, I Felau, G Ha, H Zhang… - Cancer cell, 2018 - cell.com
Thymic epithelial tumors (TETs) are one of the rarest adult malignancies. Among TETs,
thymoma is the most predominant, characterized by a unique association with autoimmune …

Identifying Mendelian disease genes with the variant effect scoring tool

H Carter, C Douville, PD Stenson, DN Cooper… - BMC genomics, 2013 - Springer
Background Whole exome sequencing studies identify hundreds to thousands of rare
protein coding variants of ambiguous significance for human health. Computational tools are …

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

S Yamamoto, M Jaiswal, WL Charng, T Gambin… - Cell, 2014 - cell.com
Invertebrate model systems are powerful tools for studying human disease owing to their
genetic tractability and ease of screening. We conducted a mosaic genetic screen of lethal …

[HTML][HTML] Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease

E Karaca, T Harel, D Pehlivan, SN Jhangiani… - Neuron, 2015 - cell.com
Development of the human nervous system involves complex interactions among
fundamental cellular processes and requires a multitude of genes, many of which remain to …

[HTML][HTML] A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing

TS Alioto, I Buchhalter, S Derdak, B Hutter… - Nature …, 2015 - nature.com
As whole-genome sequencing for cancer genome analysis becomes a clinical tool, a full
understanding of the variables affecting sequencing analysis output is required. Here using …